PATHOPHYSIOLOGY OF CHRONIC INFLAMMATORY DISORDERS AND RELATED BIOTHERAPIES

Acronym: PACIDbio  

Coordinators : AUSSEIL Jérôme and POUPOT Remy

 

Scientific Objectives

Chronic inflammatory and neuro-inflammatory diseases are characterized by a dysregulated and imbalanced immune system. Among all immune cells, myeloid cells emerge as important players in several inflammatory diseases because of their ability to promote inflammation and oxidative stress in addition to their skill to detect and mitigate pathogenic states. Our team is interested in microglia in the brain and in monocytes / macrophages in tissues that are also confronted with chronic local inflammations such as: bone, joint and the kidneys. Microglia and macrophages establish interactions with neighboring tissue cells (by releasing mediators or not), and influence their activities not only under pathological conditions, but also under physiological conditions, especially during development, homeostatic tissue processes, tissue repair, and immunity. Playing major roles in the initiation and propagation of the chronic inflammation including neuro-inflammation, microglia as well as monocytes / macrophages are therefore relevant therapeutic targets.

Our research interests are focused on the pathophysiology of inflammatory and neuro-inflammatory disorders, and on the design and the development of new biotherapies and their implementation at the preclinical and clinical steps.

 

 

 

 

 

 

 

 

 

Axis 1: Pathophysiology and gene therapy for Sanfilippo syndrome, a paediatric neurodegenerative disease

Sanfilippo syndrome (also referred as Mucopolysaccharidosis IIIB) is characterized by severe neuro-inflammation and neurodegeneration caused by the deficiency of a lysosomal exoglycanase leading to the interruption of heparan sulfate (HS) degradation. The progressive accumulation of HS Oligosaccharides (HSOs) induces oxidative stress development, cytokine and chemokine production via a TLR4-dependent activation in the central nervous system (CNS) (Trudel, J Neurosci Res 2015) and in the osteoarticular system. The activation of TLR-4 induces microglial STAT3 signalling pathway activation leading to increase expression of hepcidin and brain iron retention (Puy, Glia 2018). We are currently studying the functional and molecular status of microglia in this syndrome. We are also elucidating the role of microglia in the initiation and the propagation of inflammation leading to the neurodegenerative processes in our models (murine BV2 and primary adult microglia, human CHME-5 microglia and Sanfilippo B mouse models). Microglia-derived extracellular vesicle (EVs) are suggested to be involved in propagation of inflammatory signals in brain. However, little is known about the biogenesis and the regulation of EVs production. Using biochemical and proteomic approaches, we aim at studying the production, composition and role of EVs produced by microglia during neuro-inflammation. There is currently no therapy for these diseases. In collaboration with teams from the Institut Pasteur and the APHP, we participated in a first phase I / II clinical trial of intracerebral gene therapy on 4 Sanfilippo B children, the results of which are very encouraging. However, the neurocognitive benefit was only partial, probably because the enzyme is not delivered to the periphery of the brain.

Our team is now launching a new preclinical study on animal models. If the results are convincing, a new clinical trial will be scheduled. This project is funded by the association Vaincre les Maladies Lysosomales.

Axis 2: Pathophysiology of Parkinson disease and new anti-inflammatory therapies for neurodegenerative diseases

“Reactive microgliosis” is now considered the causal agent of neuro-inflammation that leads to neurodegeneration in several diseases linked to ageing (among which Alzheimer’s Disease and Parkinson’s Disease, PD). Part of our research is to decipher the mechanisms and kinetics leading to “reactive microgliosis” in PD using mouse model thereof.
We are also designing new therapeutic approaches to treat chronic inflammation by targeting myeloid cells (monocytes/macrophages, dendritic cells, …). We have shown that immuno-modulatory phosphorus-based dendrimers such as the ABP dendrimer are able to switch the pro-inflammatory activation of monocytes/macrophages to an anti-inflammatory phenotype. We have proven the therapeutic efficacy of these molecules in several mouse models of chronic inflammatory diseases (Rheumatoid Arthritis, Multiple Sclerosis, …). Now we want to test the therapeutic efficacy of the ABP dendrimer (or of bio-active analogues) in mouse models of neurodegenerative diseases. The cellular and molecular mechanisms underpinning the therapeutic efficacy of the dendrimers, if any, will be delineated.
In parallel, we are collaborating with Michel Simon’s team at INFINITy to take advantage of the anti-inflammatory properties of phosphorus-based dendrimers to treat skin inflammatory diseases, and in particular psoriasis, by topical application of the dendrimers.

Axis 3. Iron metabolism and hepcidin in chronic inflammatory diseases

Iron that is present in all cells of the body, is necessary for life (oxygen transport, electron transfer reactions, or DNA synthesis). Physiological iron is used mainly to produce heme, the prosthetic group of hemoproteins such as hemoglobin, myoglobin and cytochrome P450. However, excess of iron represents a real threat for the cell since it is able to generate free radicals (ROS) during the Fenton reaction (chemical reaction using  iron and oxygenated water to produce hydroxyl radical: H2O2 + Fe2+ “OH– + OH• + Fe3+).  Iron is also incriminated to promote pathogen infection. In the body, iron balance is ensured by a strict equilibrium between its absorption from the diet and its storage by macrophages. Both intestinal absorption and macrophages release of iron are controlled by hepcidin, a small peptide synthesized and secreted by the liver. The expression of hepcidin is regulated by iron variations in the body (induced in iron overload and repressed by iron deficiency and stimulated erythropoiesis). In addition, being an acute phase protein, hepcidin in induced by inflammation, which in pathology contributes to functional iron deficiency and anemia of inflammation. Hepcidin is also expressed in many other organs, albeit at a much lower level (Kidney, brain, bone, monocytes/macrophages).

 

The main goal of this axis is to develop research leading to elucidate the role of extrahepatic hepcidin in infection/inflammation process and in pathologies facing oxidative stress due to the uncontrolled inflammatory iron accumulation both in mouse models and in patients. Currently, our priorities is kidney diseases (anemia of inflammation, urinary tract infection), neuroinflammation (Sanfilippo syndrome) and bone/joint (Rheumatic disease).

Axis 4: Bone remodeling, arthritis and therapeutics

Myeloid cells (monocytes, dendritic cells, macrophages and osteoclasts) play a central role in the pathogenesis of inflammatory osteo-articular diseases such as Rheumatoid Arthritis or Psoriatic Arthritis. They are notably involved in joint inflammation, structural damage, and inflammation-induced osteoporosis. We aim at better characterizing the involvement of myeloid cells and at investigating the impact of disease-modifying anti-rheumatic drugs (DMARDs) on these cells in inflammatory rheumatic diseases.

Our strong connection to the Rheumatology department of Toulouse University Hospital and to the national Rheumatology network of University Hospitals allows an access to local (BIOTOUL) and national clinical databases and biobanks involving patients with Rheumatoid arthritis (ESPOIR cohort), Psoriatic Arthritis (APACHE cohort), Spondyloarthritis (DESIR cohort) and Systemic mastocytosis (CEREMAST).

 

Currently, we are investigating: 1)- the impact of DMARDs on macrophage polarization and osteoclastogenesis in the context of inflammatory osteo-articular diseases. 2)- the mechanisms of TNF reverse signalling induced by anti-TNF agents and its implication in clinical response to anti-TNF agents. 3)- the role of hepcidin in joint inflammation and bone remodelling during arthritis;

Axis 5 : Prader Willi Syndrome (PWS), neurodevelopment and epigenetics

Prader Willi Syndrome (PWS) is a rare neuro-developmental disease with a severe eating disorder and behavioral disturbances. We study PWS pathophysiology in the context of the National Reference Center for PWS, in Toulouse Children’s University Hospital coordinated by M. Tauber. We use complementary approaches with on-going clinical research studies and cellular models with iPSC (induced Pluripotent Stem Cells) from PWS patients. Some reports suggest an implication of SNORD116 in neuro-inflammation and neurodegeneration in PWS.

Specifically, we study the role of a small nucleolar RNA, SNORD116, with respect to neuroendocrine and endocrine abnormalities in PWS. Using specific hypothalamic neurons derived from iPSC of a patient with highly limited SNOD116 deletion (MD) (Am J Hum Genet, 2015) we have contributed to the demonstration of the role of SNORD116 in the processing of several prohormones (J Clin Invest, 2017; Coll. R. Liebel, Columbia Un. USA).

Our most recent results demonstrate the impact of SNORD116 and IGFBP7 on growth hormone therapy in PWS (Genet Med, 2021). Further studies are conducted in order to elucidate the molecular mechanisms involved.

A major topic is the role of hypothalamic dysfunction, especially related to ghrelin and oxytocin (OXT) pathways with therapeutics perspective as demonstrated by the beneficial effects of OXT administrated to PWS infants (Pediatrics, 2018 and Rev. in Lancet Diabetes Endocrinol, 2021). Ghrelin and OXT pathways in PWS in relation with SNORD116 deletion are also highly involved in addiction, food intake and behavioral disturbances, potentially linked to epigenetic modifications (Mol Psychiatry, 2020 and Transl Psychiatry, 2020).

A prospective study with placebo for the effect of OXT in infants is developed in the context of a European Trial PEDCRIN (OTBB3 Trial PedCRIN H2020 GA- N° 731046 4), supported by the startup OT4B. This study will be one support for clarifying the impact of SNORD116 and PWS on epigenetic processes in pathways underlying the dopaminergic circuit of recompense involved in addiction and social interaction (J. Salles, PhD thesis).

Another topic addresses the role of ghrelin disturbances and hormone resistance in bone metabolism. With respect to pathophysiology of scoliosis frequently observed in PWS, the molecular mechanism implicating cellular resistance are tested in models of osteoblasts (Biochim. Biophys. Acta, 2020 and Biochem Biophys Rep, 2020). This is connected with the Reference Center of the Metabolism of Calcium and Phosphate and ERN Bone coordinated by J.P. Salles.

Axis 6 : AlterAG, a new pathway for the synthesis of the endocannabinoid 2-arachidonoylglycerol in infectious and inflammatory pathologies

The discovery of endocannabinoid system (ECS), as revealed through studies of the most potent psychotropic compound from Cannabis sativa, D-9-tetrahydrocannabinol (THC), has opened a novel area of pharmacology suggesting its therapeutic potential in various pathological conditions. The ECS consists of cannabinoid receptors, their endogenous ligands (endocannabinoids) and proteins controlling their synthesis and degradation. To date, two cannabinoid receptors (CB1 and CB2) have been identified. They are cell membrane receptors containing seven transmembrane domains and they belong to the G-protein-coupled receptors family. Their expression is tissue specific since CB1 is mainly located in the central nervous system while CB2 is mainly expressed in the immune system. The two receptors are activated by endogenous lipid mediators that are released « on demand » in response to diverse physiological and pathological stimuli. Cannabinoids have pleiotropic activities like anti-inflammatory, immunomodulatory and neuroprotective properties. We have discovered a new pathway for the synthesis of the main endocannabinoid, 2-arachidonoylglycerol (2-AG), the full agonist of both receptors. This involves the hydrolysis by a lysophospholipase C called GDE3 (GDPD2 gene) of lysophosphatidylinositol (LPI), which is itself a ligand of a third type of endocannabinoid receptor (GPR55). GDE3 is expressed in particular in splenic red pulp fibroblasts, small intestine enterocytes, skin and a subpopulation of astrocytes.

Taking advantage of the use of mice invalidated for GDPD2 (GDE3-KO), we have shown a role of GDE3 in the defense against circulating bacteria, especially in the spleen. GDE3 could also contribute to neuro-inflammatory processes by intervening at two levels: small intestine, where it is essential for maintaining intestinal barrier integrity and microbiota balance, central nervous system, where it ensures the production of 2-AG on specific sites which remain to be identified.

The objective of this axis is to investigate the role of GDE3 and the mechanisms involved in several murine models of infectious and inflammatory pathologies of the gastrointestinal tract, brain (Experimental Autoimmune Encephalomyelitis or EAE, Parkinson’s disease and Sanfilippo syndrome), skin (psoriasis) and immune system. The involvement of the alternative pathway of 2-AG production, which we call Alter-AG, could thus provide interesting pharmacological targets to be explored in the context of these pathologies.

Scientific Objectives

Chronic inflammatory and neuro-inflammatory diseases are characterized by a dysregulated and imbalanced immune system. Among all immune cells, myeloid cells emerge as important players in several inflammatory diseases because of their ability to promote inflammation and oxidative stress in addition to their skill to detect and mitigate pathogenic states. Our team is interested in microglia in the brain and in monocytes / macrophages in tissues that are also confronted with chronic local inflammations such as: bone, joint and the kidneys. Microglia and macrophages establish interactions with neighboring tissue cells (by releasing mediators or not), and influence their activities not only under pathological conditions, but also under physiological conditions, especially during development, homeostatic tissue processes, tissue repair, and immunity. Playing major roles in the initiation and propagation of the chronic inflammation including neuro-inflammation, microglia as well as monocytes / macrophages are therefore relevant therapeutic targets.

Our research interests are focused on the pathophysiology of inflammatory and neuro-inflammatory disorders, and on the design and the development of new biotherapies and their implementation at the preclinical and clinical steps.

 

 

 

 

 

 

 

 

 

Axis 1: Pathophysiology and gene therapy for Sanfilippo syndrome, a paediatric neurodegenerative disease

Sanfilippo syndrome (also referred as Mucopolysaccharidosis IIIB) is characterized by severe neuro-inflammation and neurodegeneration caused by the deficiency of a lysosomal exoglycanase leading to the interruption of heparan sulfate (HS) degradation. The progressive accumulation of HS Oligosaccharides (HSOs) induces oxidative stress development, cytokine and chemokine production via a TLR4-dependent activation in the central nervous system (CNS) (Trudel, J Neurosci Res 2015) and in the osteoarticular system. The activation of TLR-4 induces microglial STAT3 signalling pathway activation leading to increase expression of hepcidin and brain iron retention (Puy, Glia 2018). We are currently studying the functional and molecular status of microglia in this syndrome. We are also elucidating the role of microglia in the initiation and the propagation of inflammation leading to the neurodegenerative processes in our models (murine BV2 and primary adult microglia, human CHME-5 microglia and Sanfilippo B mouse models). Microglia-derived extracellular vesicle (EVs) are suggested to be involved in propagation of inflammatory signals in brain. However, little is known about the biogenesis and the regulation of EVs production. Using biochemical and proteomic approaches, we aim at studying the production, composition and role of EVs produced by microglia during neuro-inflammation. There is currently no therapy for these diseases. In collaboration with teams from the Institut Pasteur and the APHP, we participated in a first phase I / II clinical trial of intracerebral gene therapy on 4 Sanfilippo B children, the results of which are very encouraging. However, the neurocognitive benefit was only partial, probably because the enzyme is not delivered to the periphery of the brain.

Our team is now launching a new preclinical study on animal models combining intracerebral and peripheral administration of a new vector crossing the blood brain barrier. If the results are convincing, a new clinical trial will be scheduled. This project is funded by the association Vaincre les Maladies Lysosomales.

Axis 2: Pathophysiology of Parkinson disease and new anti-inflammatory therapies for neurodegenerative diseases

“Reactive microgliosis” is now considered the causal agent of neuro-inflammation that leads to neurodegeneration in several diseases linked to ageing (among which Alzheimer’s Disease and Parkinson’s Disease, PD). Part of our research is to decipher the mechanisms and kinetics leading to “reactive microgliosis” in PD using mouse model thereof.
We are also designing new therapeutic approaches to treat chronic inflammation by targeting myeloid cells (monocytes/macrophages, dendritic cells, …). We have shown that immuno-modulatory phosphorus-based dendrimers such as the ABP dendrimer are able to switch the pro-inflammatory activation of monocytes/macrophages to an anti-inflammatory phenotype. We have proven the therapeutic efficacy of these molecules in several mouse models of chronic inflammatory diseases (Rheumatoid Arthritis, Multiple Sclerosis, …). Now we want to test the therapeutic efficacy of the ABP dendrimer (or of bio-active analogues) in mouse models of neurodegenerative diseases. The cellular and molecular mechanisms underpinning the therapeutic efficacy of the dendrimers, if any, will be delineated.
In parallel, we are collaborating with Michel Simon’s team at INFINITy to take advantage of the anti-inflammatory properties of phosphorus-based dendrimers to treat skin inflammatory diseases, and in particular psoriasis, by topical application of the dendrimers.

Axis 3. Iron metabolism and hepcidin in chronic inflammatory diseases

Iron that is present in all cells of the body, is necessary for life (oxygen transport, electron transfer reactions, or DNA synthesis). Physiological iron is used mainly to produce heme, the prosthetic group of hemoproteins such as hemoglobin, myoglobin and cytochrome P450. However, excess of iron represents a real threat for the cell since it is able to generate free radicals (ROS) during the Fenton reaction (chemical reaction using  iron and oxygenated water to produce hydroxyl radical: H2O2 + Fe2+ “OH– + OH• + Fe3+).  Iron is also incriminated to promote pathogen infection. In the body, iron balance is ensured by a strict equilibrium between its absorption from the diet and its storage by macrophages. Both intestinal absorption and macrophages release of iron are controlled by hepcidin, a small peptide synthesized and secreted by the liver. The expression of hepcidin is regulated by iron variations in the body (induced in iron overload and repressed by iron deficiency and stimulated erythropoiesis). In addition, being an acute phase protein, hepcidin in induced by inflammation, which in pathology contributes to functional iron deficiency and anemia of inflammation. Hepcidin is also expressed in many other organs, albeit at a much lower level (Kidney, brain, bone, monocytes/macrophages).

 

The main goal of this axis is to develop research leading to elucidate the role of extrahepatic hepcidin in infection/inflammation process and in pathologies facing oxidative stress due to the uncontrolled inflammatory iron accumulation both in mouse models and in patients. Currently, our priorities is kidney diseases (anemia of inflammation, urinary tract infection), neuroinflammation (Sanfilippo syndrome) and bone/joint (Rheumatic disease).

Axis 4: Bone remodeling, arthritis and therapeutics

Myeloid cells (monocytes, dendritic cells, macrophages and osteoclasts) play a central role in the pathogenesis of inflammatory osteo-articular diseases such as Rheumatoid Arthritis or Psoriatic Arthritis. They are notably involved in joint inflammation, structural damage, and inflammation-induced osteoporosis. We aim at better characterizing the involvement of myeloid cells and at investigating the impact of disease-modifying anti-rheumatic drugs (DMARDs) on these cells in inflammatory rheumatic diseases.

Our strong connection to the Rheumatology department of Toulouse University Hospital and to the national Rheumatology network of University Hospitals allows an access to local (BIOTOUL) and national clinical databases and biobanks involving patients with Rheumatoid arthritis (ESPOIR cohort), Psoriatic Arthritis (APACHE cohort), Spondyloarthritis (DESIR cohort) and Systemic mastocytosis (CEREMAST).

 

Currently, we are investigating: 1)- the impact of DMARDs on macrophage polarization and osteoclastogenesis in the context of inflammatory osteo-articular diseases. 2)- the mechanisms of TNF reverse signalling induced by anti-TNF agents and its implication in clinical response to anti-TNF agents. 3)- the role of hepcidin in joint inflammation and bone remodelling during arthritis;

Axis 6 : AlterAG, a new pathway for the synthesis of the endocannabinoid 2-arachidonoylglycerol in infectious and inflammatory pathologies

The discovery of endocannabinoid system (ECS), as revealed through studies of the most potent psychotropic compound from Cannabis sativa, D-9-tetrahydrocannabinol (THC), has opened a novel area of pharmacology suggesting its therapeutic potential in various pathological conditions. The ECS consists of cannabinoid receptors, their endogenous ligands (endocannabinoids) and proteins controlling their synthesis and degradation. To date, two cannabinoid receptors (CB1 and CB2) have been identified. They are cell membrane receptors containing seven transmembrane domains and they belong to the G-protein-coupled receptors family. Their expression is tissue specific since CB1 is mainly located in the central nervous system while CB2 is mainly expressed in the immune system. The two receptors are activated by endogenous lipid mediators that are released « on demand » in response to diverse physiological and pathological stimuli. Cannabinoids have pleiotropic activities like anti-inflammatory, immunomodulatory and neuroprotective properties. We have discovered a new pathway for the synthesis of the main endocannabinoid, 2-arachidonoylglycerol (2-AG), the full agonist of both receptors. This involves the hydrolysis by a lysophospholipase C called GDE3 (GDPD2 gene) of lysophosphatidylinositol (LPI), which is itself a ligand of a third type of endocannabinoid receptor (GPR55). GDE3 is expressed in particular in splenic red pulp fibroblasts, small intestine enterocytes, skin and a subpopulation of astrocytes.

Taking advantage of the use of mice invalidated for GDPD2 (GDE3-KO), we have shown a role of GDE3 in the defense against circulating bacteria, especially in the spleen. GDE3 could also contribute to neuro-inflammatory processes by intervening at two levels: small intestine, where it is essential for maintaining intestinal barrier integrity and microbiota balance, central nervous system, where it ensures the production of 2-AG on specific sites which remain to be identified.

The objective of this axis is to investigate the role of GDE3 and the mechanisms involved in several murine models of infectious and inflammatory pathologies of the gastrointestinal tract, brain (Experimental Autoimmune Encephalomyelitis or EAE, Parkinson’s disease and Sanfilippo syndrome), skin (psoriasis) and immune system. The involvement of the alternative pathway of 2-AG production, which we call Alter-AG, could thus provide interesting pharmacological targets to be explored in the context of these pathologies.

Axis 5 : Prader Willi Syndrome (PWS), neurodevelopment and epigenetics

Prader Willi Syndrome (PWS) is a rare neuro-developmental disease with a severe eating disorder and behavioral disturbances. We study PWS pathophysiology in the context of the National Reference Center for PWS, in Toulouse Children’s University Hospital coordinated by M. Tauber. We use complementary approaches with on-going clinical research studies and cellular models with iPSC (induced Pluripotent Stem Cells) from PWS patients. Some reports suggest an implication of SNORD116 in neuro-inflammation and neurodegeneration in PWS.

Specifically, we study the role of a small nucleolar RNA, SNORD116, with respect to neuroendocrine and endocrine abnormalities in PWS. Using specific hypothalamic neurons derived from iPSC of a patient with highly limited SNOD116 deletion (MD) (Am J Hum Genet, 2015) we have contributed to the demonstration of the role of SNORD116 in the processing of several prohormones (J Clin Invest, 2017; Coll. R. Liebel, Columbia Un. USA).

Our most recent results demonstrate the impact of SNORD116 and IGFBP7 on growth hormone therapy in PWS (Genet Med, 2021). Further studies are conducted in order to elucidate the molecular mechanisms involved.

A major topic is the role of hypothalamic dysfunction, especially related to ghrelin and oxytocin (OXT) pathways with therapeutics perspective as demonstrated by the beneficial effects of OXT administrated to PWS infants (Pediatrics, 2018 and Rev. in Lancet Diabetes Endocrinol, 2021). Ghrelin and OXT pathways in PWS in relation with SNORD116 deletion are also highly involved in addiction, food intake and behavioral disturbances, potentially linked to epigenetic modifications (Mol Psychiatry, 2020 and Transl Psychiatry, 2020).

A prospective study with placebo for the effect of OXT in infants is developed in the context of a European Trial PEDCRIN (OTBB3 Trial PedCRIN H2020 GA- N° 731046 4), supported by the startup OT4B. This study will be one support for clarifying the impact of SNORD116 and PWS on epigenetic processes in pathways underlying the dopaminergic circuit of recompense involved in addiction and social interaction (J. Salles, PhD thesis).

Another topic addresses the role of ghrelin disturbances and hormone resistance in bone metabolism. With respect to pathophysiology of scoliosis frequently observed in PWS, the molecular mechanism implicating cellular resistance are tested in models of osteoblasts (Biochim. Biophys. Acta, 2020 and Biochem Biophys Rep, 2020). This is connected with the Reference Center of the Metabolism of Calcium and Phosphate and ERN Bone coordinated by J.P. Salles.

Other details

Our team
Publications

2024

Salles, Juliette; Eddiry, Sanaa; Amri, Saber; Galindo, Mélissa; Lacassagne, Emmanuelle; George, Simon; Mialhe, Xavier; Lhuillier, Émeline; Franchitto, Nicolas; Jeanneteau, Freddy; Gennero, Isabelle; Salles, Jean Pierre; Tauber, Maithé

Differential DNA methylation in iPSC-derived dopaminergic neurons: a step forward on the role of SNORD116 microdeletion in the pathophysiology of addictive behavior in Prader-Willi syndrome Journal Article

In: Molecular Psychiatry, no. March, 2024, ISSN: 14765578.

Abstract | Links | BibTeX

Portillo, D. Caillet; Puechal, X.; Masson, M.; Kostine, M.; Michaut, A.; Ramon, A.; Wendling, D.; Costedoat-Chalumeau, N.; Richette, P.; Marotte, H.; Vix-Portet, J.; Dubost, J. J.; Ottaviani, S.; Mouterde, G.; Grasland, A.; Frazier, A.; Germain, V.; Coury, F.; Tournadre, A.; Soubrier, M.; Cavalie, L.; Brevet, P.; Zabraniecki, L.; Jamard, B.; Couture, G.; Arnaud, L.; Richez, C.; Degboe, Y.; Ruyssen-Witrand, A.; Constantin, A.

Diagnosis and treatment of Tropheryma whipplei infection in patients with inflammatory rheumatic disease: Data from the French Tw-IRD registry Journal Article

In: J Infect, vol. 88, no. 2, pp. 132-138, 2024, ISSN: 1532-2742 (Electronic) 0163-4453 (Linking), (Caillet Portillo, Damien Puechal, Xavier Masson, Maeva Kostine, Marie Michaut, Alexia Ramon, Andre Wendling, Daniel Costedoat-Chalumeau, Nathalie Richette, Pascal Marotte, Hubert Vix-Portet, Justine Dubost, Jean-Jacques Ottaviani, Sebastien Mouterde, Gael Grasland, Anne Frazier, Aline Germain, Vincent Coury, Fabienne Tournadre, Anne Soubrier, Martin Cavalie, Laurent Brevet, Pauline Zabraniecki, Laurent Jamard, Benedicte Couture, Guillaume Arnaud, Laurent Richez, Christophe Degboe, Yannick Ruyssen-Witrand, Adeline Constantin, Arnaud eng England 2023/12/24 J Infect. 2024 Feb;88(2):132-138. doi: 10.1016/j.jinf.2023.12.010. Epub 2023 Dec 22.).

Abstract | Links | BibTeX

Degboe, Y.; Severino-Freire, M.; Couture, G.; Apoil, P. A.; Gaudenzio, N.; Hermine, O.; Ruyssen-Witrand, A.; Paul, C.; Laroche, M.; Constantin, A.; Livideanu, C. B.

The Prevalence Of Osteoporosis Is Low in Adult Cutaneous Mastocytosis Patients Journal Article

In: J Allergy Clin Immunol Pract, vol. 12, no. 5, pp. 1306-1312, 2024, ISSN: 2213-2201 (Electronic), (Degboe, Yannick Severino-Freire, Maella Couture, Guillaume Apoil, Pol-Andre Gaudenzio, Nicolas Hermine, Olivier Ruyssen-Witrand, Adeline Paul, Carle Laroche, Michel Constantin, Arnaud Livideanu, Cristina Bulai eng Research Support, Non-U.S. Gov't 2024/03/01 J Allergy Clin Immunol Pract. 2024 May;12(5):1306-1312. doi: 10.1016/j.jaip.2024.02.021. Epub 2024 Feb 27.).

Abstract | Links | BibTeX

2023

Carle, C.; Degboe, Y.; Ruyssen-Witrand, A.; Arleevskaya, M. I.; Clavel, C.; Renaudineau, Y.

Characteristics of the (Auto)Reactive T Cells in Rheumatoid Arthritis According to the Immune Epitope Database Journal Article

In: Int J Mol Sci, vol. 24, no. 5, 2023, ISSN: 1422-0067 (Electronic) 1422-0067 (Linking), (Carle, Caroline Degboe, Yannick Ruyssen-Witrand, Adeline Arleevskaya, Marina I Clavel, Cyril Renaudineau, Yves eng 2023/Societe Francaise de Rhumatologie/ 17-15-01099/Russian Science Foundation/ Review Switzerland 2023/03/12 Int J Mol Sci. 2023 Feb 21;24(5):4296. doi: 10.3390/ijms24054296.).

Abstract | Links | BibTeX

2022

Rouleau, Coline; Malorie, Margaux; Collet, Corinne; Porquet-Bordes, Valérie; Gennero, Isabelle; Eddiry, Sanaa; Laroche, Michel; Salles, Jean Pierre; Couture, Guillaume; Edouard, Thomas

Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre Journal Article

In: Bone Reports, vol. 16, no. February, pp. 1–8, 2022, ISSN: 23521872.

Abstract | Links | BibTeX

Bloudeau, Louisa; Linglart, Agnès; Flammier, Sacha; Portefaix, · Aurélie; Bertholet-Thomas, · Aurélia; Eddiry, · Sanaa; Barosi, Anna; Salles, Jean-Pierre; Porquet-Bordes, · Valérie; Rothenbuhler, Anya; Roger, · Christelle; Bacchetta, Justine

X-linked hypophosphatemia, obesity and arterial hypertension: data from the XLH21 study FGF21 · FGF23 · Klotho · Obesity · X-linked hypophosphatemia Journal Article

In: Pediatric Nephrology, vol. 1, pp. 3, 2022, ISBN: 0123456789.

Abstract | Links | BibTeX

Degboe, Y.; Poupot, R.; Poupot, M.

Repolarization of Unbalanced Macrophages: Unmet Medical Need in Chronic Inflammation and Cancer Journal Article

In: Int J Mol Sci, vol. 23, no. 3, 2022, ISSN: 1422-0067 (Electronic) 1422-0067 (Linking), (Degboe, Yannick Poupot, Remy Poupot, Mary eng Review Switzerland 2022/02/16 Int J Mol Sci. 2022 Jan 28;23(3):1496. doi: 10.3390/ijms23031496.).

Abstract | Links | BibTeX

2021

Tauber, Maithé; Hoybye, Charlotte

Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction Journal Article

In: The Lancet Diabetes and Endocrinology, vol. 9, no. 4, pp. 235–246, 2021, ISSN: 22138595.

Abstract | Links | BibTeX

Salles, Juliette; Lacassagne, Emmanuelle; Eddiry, Sanaa; Franchitto, Nicolas; Salles, Jean Pierre; Tauber, Maithé

What can we learn from PWS and SNORD116 genes about the pathophysiology of addictive disorders? Journal Article

In: Molecular Psychiatry, vol. 26, no. 1, pp. 51–59, 2021, ISSN: 14765578.

Abstract | Links | BibTeX

Eddiry, Sanaa; Diene, Gwenaelle; Molinas, Catherine; Salles, Juliette; Auriol, Françoise Conte; Gennero, Isabelle; Bieth, Eric; Skryabin, Boris V.; Rozhdestvensky, Timofey S.; Burnett, Lisa C.; Leibel, Rudolph L.; Tauber, Maithé; Salles, Jean Pierre

SNORD116 and growth hormone therapy impact IGFBP7 in Prader–Willi syndrome Journal Article

In: Genetics in Medicine, pp. 1–9, 2021, ISSN: 1098-3600.

Links | BibTeX

Degboe, Y.; Sunzini, F.; Sood, S.; Bozec, A.; Sokolova, M. V.; Zekovic, A.; McInnes, I. B.; Schett, G.; Goodyear, C. S.

Apremilast inhibits inflammatory osteoclastogenesis Journal Article

In: Rheumatology (Oxford), vol. 61, no. 1, pp. 452-461, 2021, ISSN: 1462-0332 (Electronic) 1462-0324 (Linking), (Degboe, Yannick Sunzini, Flavia Sood, Shatakshi Bozec, Aline Sokolova, Maria V Zekovic, Ana McInnes, Iain B Schett, Georg Goodyear, Carl S eng Research Support, Non-U.S. Gov't England 2021/04/01 Rheumatology (Oxford). 2021 Dec 24;61(1):452-461. doi: 10.1093/rheumatology/keab315.).

Abstract | Links | BibTeX

Diallo, K.; Simons, N.; Sayegh, S.; Baron, M.; Degboe, Y.; Boyer, J. F.; Kruglov, A.; Nedospasov, S.; Novarino, J.; Aloulou, M.; Fazilleau, N.; Constantin, A.; Cantagrel, A.; Davignon, J. L.; Rauwel, B.

Evidence for tmTNF reverse signaling in vivo: Implications for an arginase-1-mediated therapeutic effect of TNF inhibitors during inflammation Journal Article

In: iScience, vol. 24, no. 4, pp. 102331, 2021, ISSN: 2589-0042 (Electronic) 2589-0042 (Linking), (Diallo, Katy Simons, Numa Sayegh, Souraya Baron, Michel Degboe, Yannick Boyer, Jean-Frederic Kruglov, Andrey Nedospasov, Sergei Novarino, Julien Aloulou, Meryem Fazilleau, Nicolas Constantin, Arnaud Cantagrel, Alain Davignon, Jean-Luc Rauwel, Benjamin eng 2021/04/24 iScience. 2021 Mar 21;24(4):102331. doi: 10.1016/j.isci.2021.102331. eCollection 2021 Apr 23.).

Abstract | Links | BibTeX

Degboe, Y.

Pre-rheumatoid arthritis and ACPA: Contribution of ACPAs in the pathogeny of pre-disease stage Journal Article

In: Joint Bone Spine, vol. 88, no. 3, pp. 105098, 2021, ISSN: 1778-7254 (Electronic) 1297-319X (Linking), (Degboe, Yannick eng Editorial France 2020/11/07 Joint Bone Spine. 2021 May;88(3):105098. doi: 10.1016/j.jbspin.2020.105098. Epub 2020 Nov 3.).

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2020

Briand-Mésange, Fabienne; Pons, Véronique; Allart, Sophie; Masquelier, Julien; Chicanne, Gaëtan; Beton, Nicolas; Payrastre, Bernard; Muccioli, Giulio G.; Ausseil, Jérôme; Davignon, Jean Luc; Salles, Jean Pierre; Chap, Hugues

Glycerophosphodiesterase 3 (GDE3) is a lysophosphatidylinositol-specific ectophospholipase C acting as an endocannabinoid signaling switch Journal Article

In: Journal of Biological Chemistry, vol. 295, no. 46, pp. 15767–15781, 2020, ISSN: 1083351X.

Abstract | Links | BibTeX

Briand-Mésange, Fabienne; Trudel, Stéphanie; Salles, Juliette; Ausseil, Jérôme; Salles, Jean Pierre; Chap, Hugues

Possible Role of Adipose Tissue and the Endocannabinoid System in Coronavirus Disease 2019 Pathogenesis: Can Rimonabant Return? Journal Article

In: Obesity, vol. 28, no. 9, pp. 1580–1581, 2020, ISSN: 1930739X.

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Couture, G.; Degboe, Y.; Baujat, G.; Cormier-Daire, V.; Laroche, M.

Juvenile osteoporosis with calvarial doughnuts: Progressive high-turnover bone loss responsive to bisphosphonate therapy Journal Article

In: Joint Bone Spine, vol. 87, no. 3, pp. 271-272, 2020, ISSN: 1778-7254 (Electronic) 1297-319X (Linking).

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Couture, G.; Degboe, Y.; Geniez, C.; Tack, I.; Vallet, M.; Laroche, M.

Comment on: Diagnosis of fibromyalgia: comparison of the 2011/2016 ACR and AAPT criteria and validation of the modified Fibromyalgia Assessment Status Journal Article

In: Rheumatology (Oxford), vol. 59, no. 10, pp. e79-e80, 2020, ISSN: 1462-0332 (Electronic) 1462-0324 (Linking).

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Degboe, Y.

Pre-rheumatoid arthritis and ACPA: Contribution of ACPAs in the pathogeny of pre-disease stage Journal Article

In: Joint Bone Spine, vol. 88, no. 3, pp. 105098, 2020, ISSN: 1778-7254 (Electronic) 1297-319X (Linking).

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Degboe, Y.; Schiff, M.; Weinblatt, M.; Fleischmann, R.; Ahmad, H. A.; Constantin, A.

Background Glucocorticoid Therapy Has No Impact on Efficacy and Safety of Abatacept or Adalimumab in Patients with Rheumatoid Arthritis Journal Article

In: J Clin Med, vol. 9, no. 6, 2020, ISSN: 2077-0383 (Print) 2077-0383 (Linking).

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Ferrieres, L.; Degboe, Y.; Laroche, M.; Constantin, A.; Ruyssen-Witrand, A.

No impact of anti-Rank ligand and PTH analogs on cardiovascular risk in postmenopausal osteoporosis: a systematic literature review and meta-analysis Journal Article

In: Arch Osteoporos, vol. 15, no. 1, pp. 10, 2020, ISSN: 1862-3514 (Electronic).

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Garcia, P.; Revet, A.; Yrondi, A.; Rousseau, V.; Degboe, Y.; Montastruc, F.

Psychiatric Disorders and Hydroxychloroquine for Coronavirus Disease 2019 (COVID-19): A VigiBase Study Journal Article

In: Drug Saf, vol. 43, no. 12, pp. 1315-1322, 2020, ISSN: 1179-1942 (Electronic) 0114-5916 (Linking).

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Laroche, M.; Champs, B.; Couture, G.; Degboe, Y.

Consequence of vertebral fracture cascades: about a cohort of 79 patients Journal Article

In: Osteoporos Int, vol. 31, no. 12, pp. 2497-2498, 2020, ISSN: 1433-2965 (Electronic) 0937-941X (Linking).

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Laroche, M.; Couture, G.; Ruyssen-Witrand, A.; Constantin, A.; Degboe, Y.

Effect of risedronate on bone loss at discontinuation of denosumab Journal Article

In: Bone Rep, vol. 13, pp. 100290, 2020, ISSN: 2352-1872 (Print) 2352-1872 (Linking).

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Rauwel, B.; Degboe, Y.; Diallo, K.; Sayegh, S.; Baron, M.; Boyer, J. F.; Constantin, A.; Cantagrel, A.; Davignon, J. L.

Inhibition of Osteoclastogenesis by the RNA-Binding Protein QKI5: a Novel Approach to Protect from Bone Resorption Journal Article

In: J Bone Miner Res, vol. 35, no. 4, pp. 753-765, 2020, ISSN: 1523-4681 (Electronic) 0884-0431 (Linking).

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Rauwel, B.; Degboe, Y.; Nigon, D.; Boyer, J. F.; Abravanel, F.; Izopet, J.; Combe, B.; Ruyssen-Witrand, A.; Constantin, A.; Cantagrel, A.; Davignon, J. L.

Reduced progression of bone erosion in cytomegalovirus seropositive rheumatoid arthritis patients Journal Article

In: Arthritis Res Ther, vol. 22, no. 1, pp. 13, 2020, ISSN: 1478-6362 (Electronic) 1478-6354 (Linking).

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Simons, N.; Degboe, Y.; Barnetche, T.; Cantagrel, A.; Ruyssen-Witrand, A.; Constantin, A.

Biological DMARD efficacy in psoriatic arthritis: a systematic literature review and meta-analysis on articular, enthesitis, dactylitis, skin and functional outcomes Journal Article

In: Clin Exp Rheumatol, vol. 38, no. 3, pp. 508-515, 2020, ISSN: 0392-856X (Print) 0392-856X (Linking).

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Vinson, D.; Molet-Benhamou, L.; Degboe, Y.; den Broeder, A.; Ibrahim, F.; Pontes, C.; Westhovens, R.; Zavada, J.; Pham, T.; Barnetche, T.; Constantin, A.; Ruyssen-Witrand, A.

Impact of tapering targeted therapies (bDMARDs or JAKis) on the risk of serious infections and adverse events of special interest in patients with rheumatoid arthritis or spondyloarthritis: a systematic analysis of the literature and meta-analysis Journal Article

In: Arthritis Res Ther, vol. 22, no. 1, pp. 97, 2020, ISSN: 1478-6362 (Electronic) 1478-6354 (Linking).

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Kraus, Francois; Dremaux, Julie; Altakfi, Wajd; Goux, Magalie; Pontois, Léa; Sevestre, Henri; Trudel, Stéphanie

FOXL2 homozygous genotype and chromosome instability are associated with recurrence in adult granulosa cell tumors of the ovary Journal Article

In: Oncotarget, vol. 11, no. 4, pp. 419–428, 2020, ISSN: 1949-2553.

Abstract | Links | BibTeX

Mansour, Ali; Darwiche, Walaa; Yaker, Linda; Da Nascimento, Sophie; Gomila, Cathy; Rossi, Claire; Jung, Vincent; Sonnet, Pascal; Kamel, Saïd; Guerrera, Ida Chiara; Boullier, Agnès; Ausseil, Jérôme

GFOGER Peptide Modifies the Protein Content of Extracellular Vesicles and Inhibits Vascular Calcification Journal Article

In: Frontiers in Cell and Developmental Biology, vol. 8, no. November, pp. 1–11, 2020, ISSN: 2296634X.

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Beauvieux, Marie Christine; Bérard, Annie M.; Aimone-Gastin, Isabelle; Barbé, Françoise; Barguil, Yann; Collin-Chavagnac, Delphine; Delacour, Hervé; Delevallée, Céline; Nivet-Antoine, Valérie; Peoc'h, Katell; Poupon, Carole; Schmitt, François; Piéroni, Laurence; Sapin, Vincent

SFBC working group "Biochemical markers of COVID-19" Journal Article

In: Annales de Biologie Clinique, vol. 78, no. 3, pp. 269–277, 2020, ISSN: 19506112.

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Hocquemiller, Michaël; Hemsley, Kim M.; Douglass, Meghan L.; Tamang, Sarah J.; Neumann, Daniel; King, Barbara M.; Beard, Helen; Trim, Paul J.; Winner, Leanne K.; Lau, Adeline A.; Snel, Marten F.; Gomila, Cathy; Ausseil, Jérôme; Mei, Xin; Giersch, Laura; Plavsic, Mark; Laufer, Ralph

AAVrh10 Vector Corrects Disease Pathology in MPS IIIA Mice and Achieves Widespread Distribution of SGSH in Large Animal Brains Journal Article

In: Molecular Therapy - Methods and Clinical Development, vol. 17, no. June, pp. 174–187, 2020, ISSN: 23290501.

Abstract | Links | BibTeX

Yaker, Linda; Kamel, Saïd; Ausseil, Jérôme; Boullier, Agnès

Effects of Chronic Kidney Disease and Uremic Toxins on Extracellular Vesicle Biology Journal Article

In: Toxins, vol. 12, no. 12, pp. 1–28, 2020, ISSN: 20726651.

Abstract | Links | BibTeX

Blouin, Jean-Marc; Ged, Cécile; Lalanne, Magalie; Lamrissi-Garcia, Isabelle; Morice-Picard, Fanny; Costet, Pierre; Daher, Raêd; Moreau-Gaudry, François; Bedel, Aurélie; Puy, Hervé; Gouya, Laurent; Karim, Zoubida; Richard, Emmanuel

Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria Journal Article

In: Blood, vol. 136, no. 21, pp. 2457–2468, 2020, ISSN: 1528-0020.

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Tybl, Elisabeth; Gunshin, Hiromi; Gupta, Sanjay; Barrientos, Tomasa; Bonadonna, Michael; Celma Nos, Ferran; Palais, Gael; Karim, Zoubida; Sanchez, Mayka; Andrews, Nancy C.; Galy, Bruno

Control of Systemic Iron Homeostasis by the 3' Iron-Responsive Element of Divalent Metal Transporter 1 in Mice Journal Article

In: HemaSphere, vol. 4, no. 5, pp. e459, 2020, ISSN: 2572-9241.

Abstract | Links | BibTeX

Touzot, Maxime; Lefebvre, Thibaud; Maheas, Catherine; Ridel, Christophe; Puy, Hervé; Karim, Zoubida

A hepcidin-based approach for iron therapy in hemodialysis patients: A pilot study Journal Article

In: Hemodialysis International. International Symposium on Home Hemodialysis, vol. 24, no. 2, pp. 188–194, 2020, ISSN: 1542-4758.

Abstract | Links | BibTeX

Blouin, Jean-Marc; Ged, Cécile; Lalanne, Magalie; Lamrissi-Garcia, Isabelle; Morice-Picard, Fanny; Costet, Pierre; Daher, Raêd; Moreau-Gaudry, François; Bedel, Aurélie; Puy, Hervé; Gouya, Laurent; Karim, Zoubida; Richard, Emmanuel

Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria Journal Article

In: Blood, vol. 136, no. 21, pp. 2457–2468, 2020, ISSN: 1528-0020.

Abstract | Links | BibTeX

Tybl, Elisabeth; Gunshin, Hiromi; Gupta, Sanjay; Barrientos, Tomasa; Bonadonna, Michael; Celma Nos, Ferran; Palais, Gael; Karim, Zoubida; Sanchez, Mayka; Andrews, Nancy C.; Galy, Bruno

Control of Systemic Iron Homeostasis by the 3' Iron-Responsive Element of Divalent Metal Transporter 1 in Mice Journal Article

In: HemaSphere, vol. 4, no. 5, pp. e459, 2020, ISSN: 2572-9241.

Abstract | Links | BibTeX

Touzot, Maxime; Lefebvre, Thibaud; Maheas, Catherine; Ridel, Christophe; Puy, Hervé; Karim, Zoubida

A hepcidin-based approach for iron therapy in hemodialysis patients: A pilot study Journal Article

In: Hemodialysis International. International Symposium on Home Hemodialysis, vol. 24, no. 2, pp. 188–194, 2020, ISSN: 1542-4758.

Abstract | Links | BibTeX

Barre, Ronan; Beton, Nicolas; Batut, Aurélie; Accabled, Frank; Sales de Gauzy, Jerome; Auriol, Françoise; Eddiry, Sanaa; Tauber, Maithe; Laurencin, Sara; Salles, Jean Pierre; Gennero, Isabelle

Ghrelin uses the GHS-R1a/Gi/cAMP pathway and induces differentiation only in mature osteoblasts. This ghrelin pathway is impaired in AIS patients Journal Article

In: Biochemistry and Biophysics Reports, vol. 24, 2020, ISSN: 24055808.

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Salles, Juliette; Lacassagne, Emmanuelle; Benvegnu, Grégoire; Berthoumieu, Sophie Çabal; Franchitto, Nicolas; Tauber, Maithé

The RDoC approach for translational psychiatry: Could a genetic disorder with psychiatric symptoms help fill the matrix? the example of Prader–Willi syndrome Journal Article

In: Translational Psychiatry, vol. 10, no. 1, 2020, ISSN: 21583188.

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Rauwel, B.; Degboe, Y.; Diallo, K.; Sayegh, S.; Baron, M.; Boyer, J. F.; Constantin, A.; Cantagrel, A.; Davignon, J. L.

Inhibition of Osteoclastogenesis by the RNA-Binding Protein QKI5: a Novel Approach to Protect from Bone Resorption Journal Article

In: J Bone Miner Res, vol. 35, no. 4, pp. 753-765, 2020, ISSN: 1523-4681 (Electronic) 0884-0431 (Linking), (Rauwel, Benjamin Degboe, Yannick Diallo, Katy Sayegh, Souraya Baron, Michel Boyer, Jean-Frederic Constantin, Arnaud Cantagrel, Alain Davignon, Jean-Luc eng Research Support, Non-U.S. Gov't England 2019/12/14 J Bone Miner Res. 2020 Apr;35(4):753-765. doi: 10.1002/jbmr.3943. Epub 2019 Dec 31.).

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2019

Peoc'h, Katell; Nicolas, Gaël; Schmitt, Caroline; Mirmiran, Arienne; Daher, Raed; Lefebvre, Thibaud; Gouya, Laurent; Karim, Zoubida; Puy, Hervé

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias Journal Article

In: Molecular Genetics and Metabolism, vol. 128, no. 3, pp. 190–197, 2019, ISSN: 1096-7206.

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Daher, Raêd; Mansouri, Abdellah; Martelli, Alain; Bayart, Sophie; Manceau, Hana; Callebaut, Isabelle; Moulouel, Boualem; Gouya, Laurent; Puy, Hervé; Kannengiesser, Caroline; Karim, Zoubida

GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia Journal Article

In: Molecular Genetics and Metabolism, vol. 128, no. 3, pp. 342–351, 2019, ISSN: 1096-7206.

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Peoc'h, Katell; Manceau, Hana; Karim, Zoubida; Wahlin, Staffan; Gouya, Laurent; Puy, Hervé; Deybach, Jean-Charles

Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword Journal Article

In: Molecular Genetics and Metabolism, vol. 128, no. 3, pp. 236–241, 2019, ISSN: 1096-7206.

Abstract | Links | BibTeX

Peoc'h, Katell; Nicolas, Gaël; Schmitt, Caroline; Mirmiran, Arienne; Daher, Raed; Lefebvre, Thibaud; Gouya, Laurent; Karim, Zoubida; Puy, Hervé

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias Journal Article

In: Molecular Genetics and Metabolism, vol. 128, no. 3, pp. 190–197, 2019, ISSN: 1096-7206.

Abstract | Links | BibTeX

Daher, Raêd; Mansouri, Abdellah; Martelli, Alain; Bayart, Sophie; Manceau, Hana; Callebaut, Isabelle; Moulouel, Boualem; Gouya, Laurent; Puy, Hervé; Kannengiesser, Caroline; Karim, Zoubida

GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia Journal Article

In: Molecular Genetics and Metabolism, vol. 128, no. 3, pp. 342–351, 2019, ISSN: 1096-7206.

Abstract | Links | BibTeX

Peoc'h, Katell; Manceau, Hana; Karim, Zoubida; Wahlin, Staffan; Gouya, Laurent; Puy, Hervé; Deybach, Jean-Charles

Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword Journal Article

In: Molecular Genetics and Metabolism, vol. 128, no. 3, pp. 236–241, 2019, ISSN: 1096-7206.

Abstract | Links | BibTeX

Touzot, Maxime; Lefebvre, Thibaud; Roux, Arthur; Maheas, Catherine; Ridel, Christophe; Puy, Hervé; Karim, Zoubida

Functional erythropoietin-hepcidin axis in recombinant human erythropoietin independent haemodialysis patients Journal Article

In: Nephrology (Carlton, Vic.), vol. 24, no. 7, pp. 751–757, 2019, ISSN: 1440-1797.

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Park, Sophie; Kosmider, Olivier; Maloisel, Frédéric; Drenou, Bernard; Chapuis, Nicolas; Lefebvre, Thibaud; Karim, Zoubida; Puy, Hervé; Alary, Anne Sophie; Ducamp, Sarah; Verdier, Frédérique; Bouilloux, Cécile; Rousseau, Alice; Jacob, Marie-Christine; Debliquis, Agathe; Charpentier, Agnes; Gyan, Emmanuel; Anglaret, Bruno; Leyronnas, Cecile; Corm, Selim; Slama, Borhane; Cheze, Stephane; Laribi, Kamel; Amé, Shanti; Rose, Christian; Lachenal, Florence; Toma, Andrea; Pica, Gian Matteo; Carre, Martin; Garban, Frédéric; Mariette, Clara; Cahn, Jean-Yves; Meunier, Mathieu; Herault, Olivier; Fenaux, Pierre; Wagner-Ballon, Orianne; Bardet, Valerie; Dreyfus, Francois; Fontenay, Michaela

Dyserythropoiesis evaluated by the RED score and hepcidin:ferritin ratio predicts response to erythropoietin in lower-risk myelodysplastic syndromes Journal Article

In: Haematologica, vol. 104, no. 3, pp. 497–504, 2019, ISSN: 1592-8721.

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Park, Sophie; Kosmider, Olivier; Maloisel, Frédéric; Drenou, Bernard; Chapuis, Nicolas; Lefebvre, Thibaud; Karim, Zoubida; Puy, Hervé; Alary, Anne Sophie; Ducamp, Sarah; Verdier, Frédérique; Bouilloux, Cécile; Rousseau, Alice; Jacob, Marie-Christine; Debliquis, Agathe; Charpentier, Agnes; Gyan, Emmanuel; Anglaret, Bruno; Leyronnas, Cecile; Corm, Selim; Slama, Borhane; Cheze, Stephane; Laribi, Kamel; Amé, Shanti; Rose, Christian; Lachenal, Florence; Toma, Andrea; Pica, Gian Matteo; Carre, Martin; Garban, Frédéric; Mariette, Clara; Cahn, Jean-Yves; Meunier, Mathieu; Herault, Olivier; Fenaux, Pierre; Wagner-Ballon, Orianne; Bardet, Valerie; Dreyfus, Francois; Fontenay, Michaela

Dyserythropoiesis evaluated by the RED score and hepcidin:ferritin ratio predicts response to erythropoietin in lower-risk myelodysplastic syndromes Journal Article

In: Haematologica, vol. 104, no. 3, pp. 497–504, 2019, ISSN: 1592-8721.

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Tebani, A.; Abily-Donval, L.; Schmitz-Afonso, I.; Piraud, M.; Ausseil, J.; Zerimech, F.; Pilon, C.; Pereira, T.; Marret, S.; Afonso, C.; Bekri, S.

Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics Journal Article

In: Int J Mol Sci, vol. 20, no. 2, 2019, ISSN: 1422-0067 (Electronic) 1422-0067 (Linking).

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Braun, H.; Geniez, C.; Degboe, Y.; Constantin, A.; Cantagrel, A.; Nigon, D.; Sans, N.; Faruch-Bilfeld, M.; Ruyssen-Witrand, A.

Prevalence of inflammatory posterior arch abnormalities on lumbar spine MRI in spondyloarthritis patients compared with low back pain patients Journal Article

In: Eur Radiol, vol. 29, no. 12, pp. 6405-6415, 2019, ISSN: 1432-1084 (Electronic) 0938-7994 (Linking).

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Casassa, E. A.; Mailhol, C.; Tournier, E.; Laurent, C.; Degboe, Y.; Eischen, M.; Kirsten, N.; Moreau, J.; Evrard, S. M.; Mansat-De Mas, V.; Lamant, L.; Dubreuil, P.; Apoil, P. A.; Hermine, O.; Paul, C.; Bulai Livideanu, C.

Mast cell activation syndrome: High frequency of skin manifestations and anaphylactic shock Journal Article

In: Allergol Int, vol. 68, no. 1, pp. 119-121, 2019, ISSN: 1440-1592 (Electronic) 1323-8930 (Linking).

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Champs, B.; Degboe, Y.; Barnetche, T.; Cantagrel, A.; Ruyssen-Witrand, A.; Constantin, A.

Short-term risk of major adverse cardiovascular events or congestive heart failure in patients with psoriatic arthritis or psoriasis initiating a biological therapy: a meta-analysis of randomised controlled trials Journal Article

In: RMD Open, vol. 5, no. 1, pp. e000763, 2019, ISSN: 2056-5933 (Print) 2056-5933 (Linking).

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Degboe, Y.; Eischen, M.; Apoil, P. A.; Mailhol, C.; Dubreuil, P.; Hermine, O.; Paul, C.; Bulai Livideanu, C.; Laroche, M.

Higher prevalence of vertebral fractures in systemic mastocytosis, but not in cutaneous mastocytosis and idiopathic mast cell activation syndrome Journal Article

In: Osteoporos Int, vol. 30, no. 6, pp. 1235-1241, 2019, ISSN: 1433-2965 (Electronic) 0937-941X (Linking).

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Degboe, Y.; Rauwel, B.; Baron, M.; Boyer, J. F.; Ruyssen-Witrand, A.; Constantin, A.; Davignon, J. L.

Polarization of Rheumatoid Macrophages by TNF Targeting Through an IL-10/STAT3 Mechanism Journal Article

In: Front Immunol, vol. 10, pp. 3, 2019, ISSN: 1664-3224 (Electronic) 1664-3224 (Linking).

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Fradet, M.; Negretto, M.; Tournier, E.; Laurent, C.; Apoil, P. A.; Evrard, S.; Degboe, Y.; Del Mas, V.; Lamant, L.; Dubreuil, P.; Laroche, M.; Mailhol, C.; Hermine, O.; Paul, C.; Bulai Livideanu, C.

Frequency of isolated cutaneous involvement in adult mastocytosis: a cohort study Journal Article

In: J Eur Acad Dermatol Venereol, vol. 33, no. 9, pp. 1713-1718, 2019, ISSN: 1468-3083 (Electronic) 0926-9959 (Linking).

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Luxembourger, C.; Ruyssen-Witrand, A.; Ladhari, C.; Rittore, C.; Degboe, Y.; Maillefert, J. F.; Gaudin, P.; Marotte, H.; Wendling, D.; Jorgensen, C.; Cantagrel, A.; Constantin, A.; Nigon, D.; Touitou, I.; Gottenberg, J. E.; Pers, Y. M.

A single nucleotide polymorphism of IL6-receptor is associated with response to tocilizumab in rheumatoid arthritis patients Journal Article

In: Pharmacogenomics J, vol. 19, no. 4, pp. 368-374, 2019, ISSN: 1473-1150 (Electronic) 1470-269X (Linking).

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Magnol, M.; Degboe, Y.; Couture, G.; Constantin, A.; Laroche, M.

Complex regional pain syndrome secondary to everolimus: Two cases Journal Article

In: Joint Bone Spine, vol. 86, no. 5, pp. 659-660, 2019, ISSN: 1778-7254 (Electronic) 1297-319X (Linking).

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Ruyssen-Witrand, A.; Luxembourger, C.; Cantagrel, A.; Nigon, D.; Claudepierre, P.; Degboe, Y.; Constantin, A.

Association between IL23R and ERAP1 polymorphisms and sacroiliac or spinal MRI inflammation in spondyloarthritis: DESIR cohort data Journal Article

In: Arthritis Res Ther, vol. 21, no. 1, pp. 22, 2019, ISSN: 1478-6362 (Electronic) 1478-6354 (Linking).

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Sayegh, S.; El Atat, O.; Diallo, K.; Rauwel, B.; Degboe, Y.; Cavaignac, E.; Constantin, A.; Cantagrel, A.; Trak-Smayra, V.; Alaaeddine, N.; Davignon, J. L.

Corrigendum: Rheumatoid Synovial Fluids Regulate the Immunomodulatory Potential of Adipose-Derived Mesenchymal Stem Cells Through a TNF/NF-kappaB-Dependent Mechanism Journal Article

In: Front Immunol, vol. 10, pp. 1961, 2019, ISSN: 1664-3224 (Electronic) 1664-3224 (Linking).

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Sayegh, S.; El Atat, O.; Diallo, K.; Rauwel, B.; Degboe, Y.; Cavaignac, E.; Constantin, A.; Cantagrel, A.; Trak-Smayra, V.; Alaaeddine, N.; Davignon, J. L.

Rheumatoid Synovial Fluids Regulate the Immunomodulatory Potential of Adipose-Derived Mesenchymal Stem Cells Through a TNF/NF-kappaB-Dependent Mechanism Journal Article

In: Front Immunol, vol. 10, pp. 1482, 2019, ISSN: 1664-3224 (Electronic) 1664-3224 (Linking).

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Lefebvre, Thibaud; Millot, Sarah; Richard, Emmanuel; Blouin, Jean-Marc; Lalanne, Magalie; Lamrissi-Garcia, Isabelle; Costet, Pierre; Lyoumi, Said; Gouya, Laurent; Puy, Hervé; Moreau-Gaudry, François; de Verneuil, Hubert; Karim, Zoubida; Ged, Cécile

Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria) Journal Article

In: Biochemical and Biophysical Research Communications, vol. 520, no. 2, pp. 297–303, 2019, ISSN: 1090-2104.

Abstract | Links | BibTeX

Daher, Raêd; Lefebvre, Thibaud; Puy, Hervé; Karim, Zoubida

Extrahepatic hepcidin production: The intriguing outcomes of recent years Journal Article

In: World Journal of Clinical Cases, vol. 7, no. 15, pp. 1926–1936, 2019, ISSN: 2307-8960.

Abstract | Links | BibTeX

Bondu, Sabrina; Alary, Anne-Sophie; Lefèvre, Carine; Houy, Alexandre; Jung, Grace; Lefebvre, Thibaud; Rombaut, David; Boussaid, Ismael; Bousta, Abderrahmane; Guillonneau, François; Perrier, Prunelle; Alsafadi, Samar; Wassef, Michel; Margueron, Raphaël; Rousseau, Alice; Droin, Nathalie; Cagnard, Nicolas; Kaltenbach, Sophie; Winter, Susann; Kubasch, Anne-Sophie; Bouscary, Didier; Santini, Valeria; Toma, Andrea; Hunault, Mathilde; Stamatoullas, Aspasia; Gyan, Emmanuel; Cluzeau, Thomas; Platzbecker, Uwe; Adès, Lionel; Puy, Hervé; Stern, Marc-Henri; Karim, Zoubida; Mayeux, Patrick; Nemeth, Elizabeta; Park, Sophie; Ganz, Tomas; Kautz, Léon; Kosmider, Olivier; Fontenay, Michaëla

A variant erythroferrone disrupts iron homeostasis in SF3B1-mutated myelodysplastic syndrome Journal Article

In: Science Translational Medicine, vol. 11, no. 500, 2019, ISSN: 1946-6242.

Abstract | Links | BibTeX

Mirmiran, Arienne; Schmitt, Caroline; Lefebvre, Thibaud; Manceau, Hana; Daher, Raêd; Oustric, Vincent; Poli, Antoine; Lacapère, Jean-Jacques; Moulouel, Boualem; Puy, Hervé; Karim, Zoubida; Peoc'h, Katell; Lenglet, Hugo; Simonin, Sylvie; Deybach, Jean-Charles; Nicolas, Gaël; Gouya, Laurent

Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria Journal Article

In: American Journal of Human Genetics, vol. 104, no. 2, pp. 341–347, 2019, ISSN: 1537-6605.

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Rio, Sarah; Gastou, Marc; Karboul, Narjesse; Derman, Raphaёl; Suriyun, Thunwarat; Manceau, Hana; Leblanc, Thierry; El Benna, Jamel; Schmitt, Caroline; Azouzi, Slim; Larghéro, Jérome; Karim, Zoubida; Macias-Garcia, Alejandra; Chen, Jane-Jane; Hermine, Olivier; Courtois, Geneviève; Puy, Hervé; Gouya, Laurent; Mohandas, Narla; Da Costa, Lydie

Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1 Journal Article

In: Blood, vol. 133, no. 12, pp. 1358–1370, 2019, ISSN: 1528-0020.

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Lefebvre, Thibaud; Millot, Sarah; Richard, Emmanuel; Blouin, Jean-Marc; Lalanne, Magalie; Lamrissi-Garcia, Isabelle; Costet, Pierre; Lyoumi, Said; Gouya, Laurent; Puy, Hervé; Moreau-Gaudry, François; de Verneuil, Hubert; Karim, Zoubida; Ged, Cécile

Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria) Journal Article

In: Biochemical and Biophysical Research Communications, vol. 520, no. 2, pp. 297–303, 2019, ISSN: 1090-2104.

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Daher, Raêd; Lefebvre, Thibaud; Puy, Hervé; Karim, Zoubida

Extrahepatic hepcidin production: The intriguing outcomes of recent years Journal Article

In: World Journal of Clinical Cases, vol. 7, no. 15, pp. 1926–1936, 2019, ISSN: 2307-8960.

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Touzot, Maxime; Lefebvre, Thibaud; Roux, Arthur; Maheas, Catherine; Ridel, Christophe; Puy, Hervé; Karim, Zoubida

Functional erythropoietin-hepcidin axis in recombinant human erythropoietin independent haemodialysis patients Journal Article

In: Nephrology (Carlton, Vic.), vol. 24, no. 7, pp. 751–757, 2019, ISSN: 1440-1797.

Abstract | Links | BibTeX

Mirmiran, Arienne; Schmitt, Caroline; Lefebvre, Thibaud; Manceau, Hana; Daher, Raêd; Oustric, Vincent; Poli, Antoine; Lacapère, Jean-Jacques; Moulouel, Boualem; Puy, Hervé; Karim, Zoubida; Peoc'h, Katell; Lenglet, Hugo; Simonin, Sylvie; Deybach, Jean-Charles; Nicolas, Gaël; Gouya, Laurent

Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria Journal Article

In: American Journal of Human Genetics, vol. 104, no. 2, pp. 341–347, 2019, ISSN: 1537-6605.

Abstract | Links | BibTeX

Rio, Sarah; Gastou, Marc; Karboul, Narjesse; Derman, Raphaёl; Suriyun, Thunwarat; Manceau, Hana; Leblanc, Thierry; El Benna, Jamel; Schmitt, Caroline; Azouzi, Slim; Larghéro, Jérome; Karim, Zoubida; Macias-Garcia, Alejandra; Chen, Jane-Jane; Hermine, Olivier; Courtois, Geneviève; Puy, Hervé; Gouya, Laurent; Mohandas, Narla; Da Costa, Lydie

Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1 Journal Article

In: Blood, vol. 133, no. 12, pp. 1358–1370, 2019, ISSN: 1528-0020.

Abstract | Links | BibTeX

Sayegh, S.; Atat, O. El; Diallo, K.; Rauwel, B.; Degboe, Y.; Cavaignac, E.; Constantin, A.; Cantagrel, A.; Trak-Smayra, V.; Alaaeddine, N.; Davignon, J. L.

Rheumatoid Synovial Fluids Regulate the Immunomodulatory Potential of Adipose-Derived Mesenchymal Stem Cells Through a TNF/NF-kappaB-Dependent Mechanism Journal Article

In: Front Immunol, vol. 10, pp. 1482, 2019, ISSN: 1664-3224 (Electronic) 1664-3224 (Linking), (Sayegh, Souraya El Atat, Oula Diallo, Katy Rauwel, Benjamin Degboe, Yannick Cavaignac, Etienne Constantin, Arnaud Cantagrel, Alain Trak-Smayra, Viviane Alaaeddine, Nada Davignon, Jean-Luc eng Research Support, Non-U.S. Gov't Switzerland 2019/07/19 Front Immunol. 2019 Jun 28;10:1482. doi: 10.3389/fimmu.2019.01482. eCollection 2019.).

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Luxembourger, C.; Ruyssen-Witrand, A.; Ladhari, C.; Rittore, C.; Degboe, Y.; Maillefert, J. F.; Gaudin, P.; Marotte, H.; Wendling, D.; Jorgensen, C.; Cantagrel, A.; Constantin, A.; Nigon, D.; Touitou, I.; Gottenberg, J. E.; Pers, Y. M.

A single nucleotide polymorphism of IL6-receptor is associated with response to tocilizumab in rheumatoid arthritis patients Journal Article

In: Pharmacogenomics J, vol. 19, no. 4, pp. 368-374, 2019, ISSN: 1473-1150 (Electronic) 1470-269X (Linking), (Luxembourger, Cecile Ruyssen-Witrand, Adeline Ladhari, Chayma Rittore, Cecile Degboe, Yannick Maillefert, Jean-Francis Gaudin, Philippe Marotte, Hubert Wendling, Daniel Jorgensen, Christian Cantagrel, Alain Constantin, Arnaud Nigon, Delphine Touitou, Isabelle Gottenberg, Jacques-Eric Pers, Yves-Marie eng Meta-Analysis 2019/01/17 Pharmacogenomics J. 2019 Aug;19(4):368-374. doi: 10.1038/s41397-019-0072-6. Epub 2019 Jan 16.).

Abstract | Links | BibTeX

Degboe, Y.; Eischen, M.; Apoil, P. A.; Mailhol, C.; Dubreuil, P.; Hermine, O.; Paul, C.; Livideanu, C. Bulai; Laroche, M.

Higher prevalence of vertebral fractures in systemic mastocytosis, but not in cutaneous mastocytosis and idiopathic mast cell activation syndrome Journal Article

In: Osteoporos Int, vol. 30, no. 6, pp. 1235-1241, 2019, ISSN: 1433-2965 (Electronic) 0937-941X (Linking), (Degboe, Y Eischen, M Apoil, P A Mailhol, C Dubreuil, P Hermine, O Paul, C Bulai Livideanu, C Laroche, M eng England 2019/03/09 Osteoporos Int. 2019 Jun;30(6):1235-1241. doi: 10.1007/s00198-019-04918-7. Epub 2019 Mar 7.).

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Degboe, Y.; Rauwel, B.; Baron, M.; Boyer, J. F.; Ruyssen-Witrand, A.; Constantin, A.; Davignon, J. L.

Polarization of Rheumatoid Macrophages by TNF Targeting Through an IL-10/STAT3 Mechanism Journal Article

In: Front Immunol, vol. 10, pp. 3, 2019, ISSN: 1664-3224 (Electronic) 1664-3224 (Linking), (Degboe, Yannick Rauwel, Benjamin Baron, Michel Boyer, Jean-Frederic Ruyssen-Witrand, Adeline Constantin, Arnaud Davignon, Jean-Luc eng Research Support, Non-U.S. Gov't Switzerland 2019/02/05 Front Immunol. 2019 Jan 18;10:3. doi: 10.3389/fimmu.2019.00003. eCollection 2019.).

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2018

Moniez, Sophie; Pienkowski, Catherine; Lepage, Benoit; Hamdi, Safouane; Daudin, Myriam; Oliver, Isabelle; Jouret, Béatrice; Cartault, Audrey; Diene, Gwenaelle; Verloes, Alain; Cavé, Hélène; Salles, Jean-Pierre; Tauber, Maithé; Yart, Armelle; Edouard, Thomas

Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency Journal Article

In: European Journal of Endocrinology, vol. 179, no. 6, pp. 409–418, 2018.

Abstract | Links | BibTeX

Poupot, Rémy; Goursat, Cécile; Fruchon, Séverine

Multivalent nanosystems: targeting monocytes/macrophages. Journal Article

In: International journal of nanomedicine, vol. 13, pp. 5511–5521, 2018, ISSN: 1178-2013.

Abstract | Links | BibTeX

Tauber, Maïthé; Diene, Gwenaelle; Molinas, Catherine

Growth Hormone Treatment for Prader-Willi Syndrome. Journal Article

In: Pediatric endocrinology reviews : PER, vol. 16, no. Suppl 1, pp. 91–99, 2018, ISSN: 1565-4753.

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Puy, Vincent; Darwiche, Walaa; Trudel, Stéphanie; Gomila, Cathy; Lony, Christelle; Puy, Laurent; Lefebvre, Thibaud; Vitry, Sandrine; Boullier, Agnès; Karim, Zoubida; Ausseil, Jérôme

Predominant role of microglia in brain iron retention in Sanfilippo syndrome, a pediatric neurodegenerative disease Journal Article

In: Glia, vol. 66, no. 8, pp. 1709–1723, 2018, ISSN: 1098-1136.

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Tajan, Mylène; Pernin-Grandjean, Julie; Beton, Nicolas; Gennero, Isabelle; Capilla, Florence; Neel, Benjamin G; Araki, Toshiyuki; Valet, Philippe; Tauber, Maithé; Salles, Jean-Pierre; Yart, Armelle; Edouard, Thomas

Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth Journal Article

In: Human Molecular Genetics, vol. 27, no. 13, pp. 2276–2289, 2018.

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Rouillon, Jérémy; Lefebvre, Thibaud; Denard, Jérôme; Puy, Vincent; Daher, Raed; Ausseil, Jérôme; Zocevic, Aleksandar; Fogel, Paul; Peoc'h, Katell; Wong, Brenda; Servais, Laurent; Voit, Thomas; Puy, Herve; Karim, Zoubida; Svinartchouk, Fedor

High urinary ferritin reflects myoglobin iron evacuation in DMD patients Journal Article

In: Neuromuscular disorders: NMD, vol. 28, no. 7, pp. 564–571, 2018, ISSN: 1873-2364.

Abstract | Links | BibTeX

Fruchon, Séverine; Poupot, Rémy

The ABP Dendrimer, a Drug-Candidate against Inflammatory Diseases That Triggers the Activation of Interleukin-10 Producing Immune Cells. Journal Article

In: Molecules (Basel, Switzerland), vol. 23, no. 6, 2018.

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Paepegaey, A C; Coupaye, M; Jaziri, A; Ménesguen, F; Dubern, B; Polak, M; Oppert, J M; Tauber, M; Pinto, G; Poitou, C

Impact of transitional care on endocrine and anthropometric parameters in Prader–Willi syndrome Journal Article

In: Endocrine Connections, vol. 7, no. 5, pp. 663–672, 2018.

Abstract | Links | BibTeX

Lenglet, Hugo; Schmitt, Caroline; Grange, Thomas; Manceau, Hana; Karboul, Narjesse; Bouchet-Crivat, Florian; Robreau, Anne-Marie; Nicolas, Gael; Lamoril, Jerôme; Simonin, Sylvie; Mirmiran, Arienne; Karim, Zoubida; Casalino, Enrique; Deybach, Jean-Charles; Puy, Hervé; Peoc'h, Katell; Gouya, Laurent

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria Journal Article

In: Human Molecular Genetics, vol. 27, no. 7, pp. 1164–1173, 2018, ISSN: 1460-2083.

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Pallet, Nicolas; Karras, Alexandre; Thervet, Eric; Gouya, Laurent; Karim, Zoubida; Puy, Hervé

Porphyria and kidney diseases Journal Article

In: Clinical Kidney Journal, vol. 11, no. 2, pp. 191–197, 2018, ISSN: 2048-8505.

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Lefebvre, Thibaud; Reihani, Niloofar; Daher, Raed; de Villemeur, Thierry Billette; Belmatoug, Nadia; Rose, Christian; Colin-Aronovicz, Yves; Puy, Hervé; Le Van Kim, Caroline; Franco, Mélanie; Karim, Zoubida

Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease Journal Article

In: Haematologica, vol. 103, no. 4, pp. 587–596, 2018, ISSN: 1592-8721.

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Hayder, Myriam; Garzoni, Matteo; Bochicchio, Davide; Caminade, Anne-Marie; Couderc, François; Ong-Meang, Varravaddheay; Davignon, Jean-Luc; Turrin, Cédric-Olivier; Pavan, Giovanni M; Poupot, Rémy

Three-Dimensional Directionality Is a Pivotal Structural Feature for the Bioactivity of Azabisphosphonate-Capped Poly(PhosphorHydrazone) Nanodrug Dendrimers. Journal Article

In: Biomacromolecules, vol. 19, no. 3, pp. 712–720, 2018, ISSN: 1526-4602.

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Poupot, Rémy; Bergozza, Dylan; Fruchon, Séverine

Nanoparticle-Based Strategies to Treat Neuro-Inflammation. Journal Article

In: Materials (Basel, Switzerland), vol. 11, no. 2, pp. 270, 2018, ISSN: 1996-1944.

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Allas, Soraya; Caixàs, Assumpta; Poitou, Christine; Coupaye, Muriel; Thuilleaux, Denise; Lorenzini, Françoise; Diene, Gwenaëlle; Crinò, Antonino; Illouz, Frédéric; Grugni, Graziano; Potvin, Diane; Bocchini, Sarah; Delale, Thomas; Abribat, Thierry; Tauber, Maithé

AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome: A randomized placebo-controlled trial Journal Article

In: PLoS ONE, vol. 13, no. 1, pp. 1–19, 2018, ISSN: 19326203.

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Thuilleaux, Denise; Laurier, Virginie; Copet, Pierre; Tricot, Julie; Demeer, Geneviève; Mourre, Fabien; Tauber, Maithé; Jauregi, Joseba

A model to characterize psychopathological features in adults with Prader-Willi syndrome Journal Article

In: American Journal of Medical Genetics, Part A, vol. 176, no. 1, pp. 41–47, 2018, ISSN: 15524833.

Abstract | Links | BibTeX

Puy, V.; Darwiche, W.; Trudel, S.; Gomila, C.; Lony, C.; Puy, L.; Lefebvre, T.; Vitry, S.; Boullier, A.; Karim, Z.; Ausseil, J.

Predominant role of microglia in brain iron retention in Sanfilippo syndrome, a pediatric neurodegenerative disease Journal Article

In: Glia, vol. 66, no. 8, pp. 1709-1723, 2018, ISSN: 1098-1136 (Electronic) 0894-1491 (Linking).

Links | BibTeX

Rouillon, J.; Lefebvre, T.; Denard, J.; Puy, V.; Daher, R.; Ausseil, J.; Zocevic, A.; Fogel, P.; Peoc'h, K.; Wong, B.; Servais, L.; Voit, T.; Puy, H.; Karim, Z.; Svinartchouk, F.

High urinary ferritin reflects myoglobin iron evacuation in DMD patients Journal Article

In: Neuromuscul Disord, vol. 28, no. 7, pp. 564-571, 2018, ISSN: 1873-2364 (Electronic) 0960-8966 (Linking).

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Tebani, A.; Abily-Donval, L.; Schmitz-Afonso, I.; Heron, B.; Piraud, M.; Ausseil, J.; Zerimech, F.; Gonzalez, B.; Marret, S.; Afonso, C.; Bekri, S.

Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis Journal Article

In: J Transl Med, vol. 16, no. 1, pp. 248, 2018, ISSN: 1479-5876 (Electronic) 1479-5876 (Linking).

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Petillon, Camille; Hergesheimer, Rudolf; Puy, Hervé; Corcia, Philippe; Vourc'h, Patrick; Andres, Christian; Karim, Zoubida; Blasco, Hélène

The Relevancy of Data Regarding the Metabolism of Iron to Our Understanding of Deregulated Mechanisms in ALS; Hypotheses and Pitfalls Journal Article

In: Frontiers in Neuroscience, vol. 12, pp. 1031, 2018, ISSN: 1662-4548.

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Mabille, C.; Ruyssen-Witrand, A.; Degboe, Y.; Gennero, I.; Loiseau, H. A.; Roussel, M.; Hebraud, B.; Nigon, D.; Attal, M.; Laroche, M.

DKK1 and sclerostin are early markers of relapse in multiple myeloma Journal Article

In: Bone, vol. 113, pp. 114-117, 2018, ISSN: 1873-2763 (Electronic) 1873-2763 (Linking), (Mabille, Charlotte Ruyssen-Witrand, Adeline Degboe, Yannick Gennero, Isabelle Loiseau, Herve Avet Roussel, Murielle Hebraud, Benjamin Nigon, Delphine Attal, Michel Laroche, Michel eng Multicenter Study Randomized Controlled Trial Research Support, Non-U.S. Gov't 2017/10/11 Bone. 2018 Aug;113:114-117. doi: 10.1016/j.bone.2017.10.004. Epub 2017 Oct 6.).

Abstract | Links | BibTeX

Laroche, M.; Baradat, C.; Ruyssen-Witrand, A.; Degboe, Y.

Variability of Denosumab densitometric response in postmenopausal osteoporosis Journal Article

In: Rheumatol Int, vol. 38, no. 3, pp. 461-466, 2018, ISSN: 1437-160X (Electronic) 0172-8172 (Linking), (Laroche, M Baradat, C Ruyssen-Witrand, A Degboe, Y eng Germany 2018/01/25 Rheumatol Int. 2018 Mar;38(3):461-466. doi: 10.1007/s00296-018-3929-0. Epub 2018 Jan 23.).

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2017

Daher, Raed; Manceau, Hana; Karim, Zoubida

Iron metabolism and the role of the iron-regulating hormone hepcidin in health and disease Journal Article

In: Presse Medicale (Paris, France: 1983), vol. 46, no. 12 Pt 2, pp. e272–e278, 2017, ISSN: 2213-0276.

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Fruchon, Séverine; Poupot, Rémy

Pro-Inflammatory Versus Anti-Inflammatory Effects of Dendrimers: The Two Faces of Immuno-Modulatory Nanoparticles. Journal Article

In: Nanomaterials (Basel, Switzerland), vol. 7, no. 9, pp. 251, 2017, ISSN: 2079-4991.

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Bakouh, Naziha; Bellanca, Sebastiano; Nyboer, Britta; Moliner Cubel, Sonia; Karim, Zoubida; Sanchez, Cecilia P.; Stein, Wilfred D.; Planelles, Gabrielle; Lanzer, Michael

Iron is a substrate of the Plasmodium falciparum chloroquine resistance transporter PfCRT in Xenopus oocytes Journal Article

In: The Journal of Biological Chemistry, vol. 292, no. 39, pp. 16109–16121, 2017, ISSN: 1083-351X.

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Van Aelst, Lucas N. L.; Abraham, Marjorie; Sadoune, Malha; Lefebvre, Thibaud; Manivet, Philippe; Logeart, Damien; Launay, Jean-Marie; Karim, Zoubida; Puy, Hervé; Cohen-Solal, Alain

Iron status and inflammatory biomarkers in patients with acutely decompensated heart failure: early in-hospital phase and 30-day follow-up Journal Article

In: European Journal of Heart Failure, vol. 19, no. 8, pp. 1075–1076, 2017, ISSN: 1879-0844.

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Millot, Sarah; Delaby, Constance; Moulouel, Boualem; Lefebvre, Thibaud; Pilard, Nathalie; Ducrot, Nicolas; Ged, Cécile; Lettéron, Philippe; de Franceschi, Lucia; Deybach, Jean Charles; Beaumont, Carole; Gouya, Laurent; De Verneuil, Hubert; Lyoumi, Saïd; Puy, Hervé; Karim, Zoubida

Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model Journal Article

In: Haematologica, vol. 102, no. 2, pp. 260–270, 2017, ISSN: 1592-8721.

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Burnett, L. C.; LeDuc, C. A.; Sulsona, C. R.; Paull, D.; Rausch, R.; Eddiry, S.; Carli, J. F.; Morabito, M. V.; Skowronski, A. A.; Hubner, G.; Zimmer, M.; Wang, L.; Day, R.; Levy, B.; Fennoy, I.; Dubern, B.; Poitou, C.; Clement, K.; Butler, M. G.; Rosenbaum, M.; Salles, J. P.; Tauber, M.; Driscoll, D. J.; Egli, D.; Leibel, R. L.

Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome Journal Article

In: J Clin Invest, vol. 127, no. 1, pp. 293-305, 2017, ISSN: 1558-8238 (Electronic) 0021-9738 (Linking).

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Tauber, Maïthé; Boulanouar, Kader; Diene, Gwenaelle; Çabal-Berthoumieu, Sophie; Ehlinger, Virginie; Fichaux-Bourin, Pascale; Molinas, Catherine; Faye, Sandy; Valette, Marion; Pourrinet, Jeanne; Cessans, Catie; Viaux-Sauvelon, Sylvie; Bascoul, Céline; Guedeney, Antoine; Delhanty, Patric; Geenen, Vincent; Martens, Henri; Muscatelli, Françoise; Cohen, David; Consoli, Angèle; Payoux, Pierre; Arnaud, Catherine; Salles, Jean-Pierre

The Use of Oxytocin to Improve Feeding and Social Skills in Infants With Prader–Willi Syndrome Journal Article

In: PEDIATRICS, vol. 139, no. 2, pp. e2 0162976, 2017.

BibTeX

Bodet, P. E.; Salard, I.; Przybylski, C.; Gonnet, F.; Gomila, C.; Ausseil, J.; Daniel, R.

Efficient recovery of glycosaminoglycan oligosaccharides from polyacrylamide gel electrophoresis combined with mass spectrometry analysis Journal Article

In: Anal Bioanal Chem, vol. 409, no. 5, pp. 1257-1269, 2017, ISSN: 1618-2650 (Electronic) 1618-2642 (Linking).

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Daher, I.; Le Dieu-Lugon, B.; Dourmap, N.; Lecuyer, M.; Ramet, L.; Gomila, C.; Ausseil, J.; Marret, S.; Leroux, P.; Roy, V.; El Mestikawy, S.; Daumas, S.; Gonzalez, B.; Leroux-Nicollet, I.; Cleren, C.

Magnesium Sulfate Prevents Neurochemical and Long-Term Behavioral Consequences of Neonatal Excitotoxic Lesions: Comparison Between Male and Female Mice Journal Article

In: J Neuropathol Exp Neurol, vol. 76, no. 10, pp. 883-897, 2017, ISSN: 1554-6578 (Electronic) 0022-3069 (Linking).

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Hodroge, A.; Trecherel, E.; Cornu, M.; Darwiche, W.; Mansour, A.; Ait-Mohand, K.; Verissimo, T.; Gomila, C.; Schembri, C.; Da Nascimento, S.; Elboutachfaiti, R.; Boullier, A.; Lorne, E.; Courtois, J.; Petit, E.; Toumieux, S.; Kovensky, J.; Sonnet, P.; Massy, Z. A.; Kamel, S.; Rossi, C.; Ausseil, J.

Oligogalacturonic Acid Inhibits Vascular Calcification by Two Mechanisms: Inhibition of Vascular Smooth Muscle Cell Osteogenic Conversion and Interaction With Collagen Journal Article

In: Arterioscler Thromb Vasc Biol, vol. 37, no. 7, pp. 1391-1401, 2017, ISSN: 1524-4636 (Electronic) 1079-5642 (Linking).

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Tardieu, M.; Zerah, M.; Gougeon, M. L.; Ausseil, J.; de Bournonville, S.; Husson, B.; Zafeiriou, D.; Parenti, G.; Bourget, P.; Poirier, B.; Furlan, V.; Artaud, C.; Baugnon, T.; Roujeau, T.; Crystal, R. G.; Meyer, C.; Deiva, K.; Heard, J. M.

Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial Journal Article

In: Lancet Neurol, vol. 16, no. 9, pp. 712-720, 2017, ISSN: 1474-4465 (Electronic) 1474-4422 (Linking).

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Tebani, A.; Schmitz-Afonso, I.; Abily-Donval, L.; Heron, B.; Piraud, M.; Ausseil, J.; Brassier, A.; De Lonlay, P.; Zerimech, F.; Vaz, F. M.; Gonzalez, B. J.; Marret, S.; Afonso, C.; Bekri, S.

Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling Journal Article

In: Clin Chim Acta, vol. 475, pp. 7-14, 2017, ISSN: 1873-3492 (Electronic) 0009-8981 (Linking).

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Yien, Yvette Y.; Ducamp, Sarah; van der Vorm, Lisa N.; Kardon, Julia R.; Manceau, Hana; Kannengiesser, Caroline; Bergonia, Hector A.; Kafina, Martin D.; Karim, Zoubida; Gouya, Laurent; Baker, Tania A.; Puy, Hervé; Phillips, John D.; Nicolas, Gaël; Paw, Barry H.

Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria Journal Article

In: Proceedings of the National Academy of Sciences of the United States of America, vol. 114, no. 38, pp. E8045–E8052, 2017, ISSN: 1091-6490.

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de Montalembert, Mariane; Ribeil, Jean-Antoine; Brousse, Valentine; Guerci-Bresler, Agnes; Stamatoullas, Aspasia; Vannier, Jean-Pierre; Dumesnil, Cécile; Lahary, Agnès; Touati, Mohamed; Bouabdallah, Krimo; Cavazzana, Marina; Chauzit, Emmanuelle; Baptiste, Amandine; Lefebvre, Thibaud; Puy, Hervé; Elie, Caroline; Karim, Zoubida; Ernst, Olivier; Rose, Christian

Cardiac iron overload in chronically transfused patients with thalassemia, sickle cell anemia, or myelodysplastic syndrome Journal Article

In: PloS One, vol. 12, no. 3, pp. e0172147, 2017, ISSN: 1932-6203.

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Tchernitchko, Dimitri; Tavernier, Quentin; Lamoril, Jérôme; Schmitt, Caroline; Talbi, Neila; Lyoumi, Said; Robreau, Anne-Marie; Karim, Zoubida; Gouya, Laurent; Thervet, Eric; Karras, Alexandre; Puy, Hervé; Pallet, Nicolas

A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease Journal Article

In: Journal of the American Society of Nephrology: JASN, vol. 28, no. 6, pp. 1924–1932, 2017, ISSN: 1533-3450.

Abstract | Links | BibTeX

Degboe, Y.; Eischen, M.; Nigon, D.; Apoil, P. A.; Mailhol, C.; Tournier, E.; Laurent, C.; Hanssens, K.; Hermine, O.; Paul, C.; Laroche, M.; Bulai-Livideanu, C.

Prevalence and risk factors for fragility fracture in systemic mastocytosis Journal Article

In: Bone, vol. 105, pp. 219-225, 2017, ISSN: 1873-2763 (Electronic) 1873-2763 (Linking), (Degboe, Yannick Eischen, Marine Nigon, Delphine Apoil, Pol-Andre Mailhol, Claire Tournier, Emilie Laurent, Camille Hanssens, Katia Hermine, Olivier Paul, Carle Laroche, Michel Bulai-Livideanu, Cristina eng 2017/09/19 Bone. 2017 Dec;105:219-225. doi: 10.1016/j.bone.2017.09.005. Epub 2017 Sep 14.).

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2016

Karim, Zoubida; Puy, Hervé; Beaumont, Carole; Gouya, Laurent; Kannengiesser, Caroline

Reply Journal Article

In: Gastroenterology, vol. 151, no. 4, pp. 771–772, 2016, ISSN: 1528-0012.

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Daher, Raed; Kannengiesser, Caroline; Houamel, Dounia; Lefebvre, Thibaud; Bardou-Jacquet, Edouard; Ducrot, Nicolas; de Kerguenec, Caroline; Jouanolle, Anne-Marie; Robreau, Anne-Marie; Oudin, Claire; Le Gac, Gerald; Moulouel, Boualem; Loustaud-Ratti, Veronique; Bedossa, Pierre; Valla, Dominique; Gouya, Laurent; Beaumont, Carole; Brissot, Pierre; Puy, Hervé; Karim, Zoubida; Tchernitchko, Dimitri

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans Journal Article

In: Gastroenterology, vol. 150, no. 3, pp. 672–683.e4, 2016, ISSN: 1528-0012.

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Houamel, Dounia; Ducrot, Nicolas; Lefebvre, Thibaud; Daher, Raed; Moulouel, Boualem; Sari, Marie-Agnes; Letteron, Philippe; Lyoumi, Said; Millot, Sarah; Tourret, Jerome; Bouvet, Odile; Vaulont, Sophie; Vandewalle, Alain; Denamur, Erick; Puy, Hervé; Beaumont, Carole; Gouya, Laurent; Karim, Zoubida

Hepcidin as a Major Component of Renal Antibacterial Defenses against Uropathogenic Escherichia coli Journal Article

In: Journal of the American Society of Nephrology: JASN, vol. 27, no. 3, pp. 835–846, 2016, ISSN: 1533-3450.

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Puy, Hervé; Manceau, Hana; Karim, Zoubida; Kan-Nengiesser, Caroline

Rare microcytic anemias Journal Article

In: Bulletin De l'Academie Nationale De Medecine, vol. 200, no. 2, pp. 335–347, 2016, ISSN: 0001-4079.

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Burnett, L. C.; LeDuc, C. A.; Sulsona, C. R.; Paull, D.; Eddiry, S.; Levy, B.; Salles, J. P.; Tauber, M.; Driscoll, D. J.; Egli, D.; Leibel, R. L.

Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS Journal Article

In: Stem Cell Res, vol. 17, no. 3, pp. 526-530, 2016, ISSN: 1876-7753 (Electronic) 1873-5061 (Linking).

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Boyer, J. F.; Baron, M.; Constantin, A.; Degboe, Y.; Cantagrel, A.; Davignon, J. L.

Anti-TNF certolizumab pegol induces antioxidant response in human monocytes via reverse signaling Journal Article

In: Arthritis Res Ther, vol. 18, pp. 56, 2016, ISSN: 1478-6362 (Electronic) 1478-6354 (Linking).

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Ielasi, F.; Ledall, J.; Anes, A. P.; Fruchon, S.; Caminade, A. M.; Poupot, R.; Turrin, C. O.; Blanzat, M.

Influence of PPH dendrimers' surface functions on the activation of human monocytes: a study of their interactions with pure lipid model systems Journal Article

In: Phys Chem Chem Phys, vol. 18, no. 31, pp. 21871-80, 2016, ISSN: 1463-9084 (Electronic) 1463-9076 (Linking).

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Poupot, M.; Turrin, C. O.; Caminade, A. M.; Fournie, J. J.; Attal, M.; Poupot, R.; Fruchon, S.

Poly(phosphorhydrazone) dendrimers: yin and yang of monocyte activation for human NK cell amplification applied to immunotherapy against multiple myeloma Journal Article

In: Nanomedicine, vol. 12, no. 8, pp. 2321-2330, 2016, ISSN: 1549-9642 (Electronic) 1549-9634 (Linking).

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Puy, V.; Zmudka-Attier, J.; Capel, C.; Bouzerar, R.; Serot, J. M.; Bourgeois, A. M.; Ausseil, J.; Baledent, O.

Interactions between Flow Oscillations and Biochemical Parameters in the Cerebrospinal Fluid Journal Article

In: Front Aging Neurosci, vol. 8, pp. 154, 2016, ISSN: 1663-4365 (Print) 1663-4365 (Linking).

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Deschemin, Jean-Christophe; Noordine, Marie-Louise; Remot, Aude; Willemetz, Alexandra; Afif, Clément; Canonne-Hergaux, François; Langella, Philippe; Karim, Zoubida; Vaulont, Sophie; Thomas, Muriel; Nicolas, Gaël

The microbiota shifts the iron sensing of intestinal cells Journal Article

In: FASEB journal: official publication of the Federation of American Societies for Experimental Biology, vol. 30, no. 1, pp. 252–261, 2016, ISSN: 1530-6860.

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2015

Lefebvre, Thibaud; Dessendier, Nathalie; Houamel, Dounia; Ialy-Radio, Nathalie; Kannengiesser, Caroline; Manceau, Hana; Beaumont, Carole; Nicolas, Gael; Gouya, Laurent; Puy, Hervé; Karim, Zoubida

LC-MS/MS method for hepcidin-25 measurement in human and mouse serum: clinical and research implications in iron disorders Journal Article

In: Clinical Chemistry and Laboratory Medicine, vol. 53, no. 10, pp. 1557–1567, 2015, ISSN: 1437-4331.

Abstract | Links | BibTeX

Karim, Zoubida; Lyoumi, Said; Nicolas, Gael; Deybach, Jean-Charles; Gouya, Laurent; Puy, Hervé

Porphyrias: A 2015 update Journal Article

In: Clinics and Research in Hepatology and Gastroenterology, vol. 39, no. 4, pp. 412–425, 2015, ISSN: 2210-741X.

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Homedan, Chadi; Schmitt, Caroline; Laafi, Jihane; Gueguen, Naïg; Desquiret-Dumas, Valérie; Lenglet, Hugo; Karim, Zoubida; Gouya, Laurent; Deybach, Jean-Charles; Simard, Gilles; Puy, Hervé; Malthièry, Yves; Reynier, Pascal

Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria Journal Article

In: Human Molecular Genetics, vol. 24, no. 17, pp. 5015–5023, 2015, ISSN: 1460-2083.

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Pallet, Nicolas; Mami, Iadh; Schmitt, Caroline; Karim, Zoubida; François, Arnaud; Rabant, Marion; Nochy, Dominique; Gouya, Laurent; Deybach, Jean-Charles; Xu-Dubois, Yichum; Thervet, Eric; Puy, Hervé; Karras, Alexandre

High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria Journal Article

In: Kidney International, vol. 88, no. 2, pp. 386–395, 2015, ISSN: 1523-1755.

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Martelli, Alain; Schmucker, Stéphane; Reutenauer, Laurence; Mathieu, Jacques R. R.; Peyssonnaux, Carole; Karim, Zoubida; Puy, Hervé; Galy, Bruno; Hentze, Matthias W.; Puccio, Hélène

Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency Journal Article

In: Cell Metabolism, vol. 21, no. 2, pp. 311–323, 2015, ISSN: 1932-7420.

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Bieth, E.; Eddiry, S.; Gaston, V.; Lorenzini, F.; Buffet, A.; Conte Auriol, F.; Molinas, C.; Cailley, D.; Rooryck, C.; Arveiler, B.; Cavaille, J.; Salles, J. P.; Tauber, M.

Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome Journal Article

In: Eur J Hum Genet, vol. 23, no. 2, pp. 252-5, 2015, ISSN: 1476-5438 (Electronic) 1018-4813 (Linking).

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Haine, E.; Salles, J. P.; Khau Van Kien, P.; Conte-Auriol, F.; Gennero, I.; Plancke, A.; Julia, S.; Dulac, Y.; Tauber, M.; Edouard, T.

Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype Journal Article

In: J Bone Miner Res, vol. 30, no. 8, pp. 1369-76, 2015, ISSN: 1523-4681 (Electronic) 0884-0431 (Linking).

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Sales de Gauzy, J.; Gennero, I.; Delrous, O.; Salles, J. P.; Lepage, B.; Accadbled, F.

Fasting total ghrelin levels are increased in patients with adolescent idiopathic scoliosis Journal Article

In: Scoliosis, vol. 10, pp. 33, 2015, ISSN: 1748-7161 (Print) 1748-7161 (Linking).

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Caminade, A. M.; Fruchon, S.; Turrin, C. O.; Poupot, M.; Ouali, A.; Maraval, A.; Garzoni, M.; Maly, M.; Furer, V.; Kovalenko, V.; Majoral, J. P.; Pavan, G. M.; Poupot, R.

The key role of the scaffold on the efficiency of dendrimer nanodrugs Journal Article

In: Nat Commun, vol. 6, pp. 7722, 2015, ISSN: 2041-1723 (Electronic) 2041-1723 (Linking).

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Fruchon, S.; Mouriot, S.; Thiollier, T.; Grandin, C.; Caminade, A. M.; Turrin, C. O.; Contamin, H.; Poupot, R.

Repeated intravenous injections in non-human primates demonstrate preclinical safety of an anti-inflammatory phosphorus-based dendrimer Journal Article

In: Nanotoxicology, vol. 9, no. 4, pp. 433-41, 2015, ISSN: 1743-5404 (Electronic) 1743-5390 (Linking).

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Hameau, Aurélien; Fruchon, Séverine; Bijani, Christian; Barducci, Alessandro; Blanzat, Muriel; Poupot, Rémy; Pavan, Giovanni M.; Caminade, Anne-Marie; Turrin, Cédric-Olivier

Theoretical and experimental characterization of amino-PEG-phosphonate-terminated Polyphosphorhydrazone dendrimers: Influence of size and PEG capping on cytotoxicity profiles Journal Article

In: Journal of Polymer Science Part A: Polymer Chemistry, vol. 53, no. 6, pp. 761-774, 2015, ISSN: 0887624X.

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Ledall, J.; Fruchon, S.; Garzoni, M.; Pavan, G. M.; Caminade, A. M.; Turrin, C. O.; Blanzat, M.; Poupot, R.

Interaction studies reveal specific recognition of an anti-inflammatory polyphosphorhydrazone dendrimer by human monocytes Journal Article

In: Nanoscale, vol. 7, no. 42, pp. 17672-84, 2015, ISSN: 2040-3372 (Electronic) 2040-3364 (Linking).

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Bruyere, J.; Roy, E.; Ausseil, J.; Lemonnier, T.; Teyre, G.; Bohl, D.; Etienne-Manneville, S.; Lortat-Jacob, H.; Heard, J. M.; Vitry, S.

Heparan sulfate saccharides modify focal adhesions: implication in mucopolysaccharidosis neuropathophysiology Journal Article

In: J Mol Biol, vol. 427, no. 4, pp. 775-791, 2015, ISSN: 1089-8638 (Electronic) 0022-2836 (Linking).

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Martins, C.; Hulkova, H.; Dridi, L.; Dormoy-Raclet, V.; Grigoryeva, L.; Choi, Y.; Langford-Smith, A.; Wilkinson, F. L.; Ohmi, K.; DiCristo, G.; Hamel, E.; Ausseil, J.; Cheillan, D.; Moreau, A.; Svobodova, E.; Hajkova, Z.; Tesarova, M.; Hansikova, H.; Bigger, B. W.; Hrebicek, M.; Pshezhetsky, A. V.

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model Journal Article

In: Brain, vol. 138, no. Pt 2, pp. 336-55, 2015, ISSN: 1460-2156 (Electronic) 0006-8950 (Linking).

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Trudel, S.; Trecherel, E.; Gomila, C.; Peltier, M.; Aubignat, M.; Gubler, B.; Morliere, P.; Heard, J. M.; Ausseil, J.

Oxidative stress is independent of inflammation in the neurodegenerative Sanfilippo syndrome type B Journal Article

In: J Neurosci Res, vol. 93, no. 3, pp. 424-32, 2015, ISSN: 1097-4547 (Electronic) 0360-4012 (Linking).

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2014

Homedan, Chadi; Laafi, Jihane; Schmitt, Caroline; Gueguen, Naïg; Lefebvre, Thibaud; Karim, Zoubida; Desquiret-Dumas, Valérie; Wetterwald, Céline; Deybach, Jean-Charles; Gouya, Laurent; Puy, Hervé; Reynier, Pascal; Malthièry, Yves

Acute intermittent porphyria causes hepatic mitochondrial energetic failure in a mouse model Journal Article

In: The International Journal of Biochemistry & Cell Biology, vol. 51, pp. 93–101, 2014, ISSN: 1878-5875.

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Oustric, Vincent; Manceau, Hana; Ducamp, Sarah; Soaid, Rima; Karim, Zoubida; Schmitt, Caroline; Mirmiran, Arienne; Peoc'h, Katell; Grandchamp, Bernard; Beaumont, Carole; Lyoumi, Said; Moreau-Gaudry, François; Guyonnet-Dupérat, Véronique; de Verneuil, Hubert; Marie, Joëlle; Puy, Herve; Deybach, Jean-Charles; Gouya, Laurent

Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria Journal Article

In: American Journal of Human Genetics, vol. 94, no. 4, pp. 611–617, 2014, ISSN: 1537-6605.

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Cadoudal, T.; Buleon, M.; Sengenes, C.; Diene, G.; Desneulin, F.; Molinas, C.; Eddiry, S.; Conte-Auriol, F.; Daviaud, D.; Martin, P. G.; Bouloumie, A.; Salles, J. P.; Tauber, M.; Valet, P.

Impairment of adipose tissue in Prader-Willi syndrome rescued by growth hormone treatment Journal Article

In: Int J Obes (Lond), vol. 38, no. 9, pp. 1234-40, 2014, ISSN: 1476-5497 (Electronic) 0307-0565 (Linking).

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Y, Degboé; S, Fruchon; M, Baron; D, Nigon; CO, Turrin; AM, Caminade; R, Poupot; A, Cantagrel; JL, Davignon

Modulation of pro-inflammatory activation of monocytes and dendritic cells by aza-bis-phosphonate dendrimer as an experimental therapeutic agent Journal Article

In: Arthritis Research and Therapy, vol. 16, no. R98, 2014.

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2013

Delaby, Constance; Oustric, Vincent; Schmitt, Caroline; Muzeau, Francoise; Robreau, Anne-Marie; Letteron, Philippe; Couchi, Eric; Yu, Angel; Lyoumi, Saïd; Deybach, Jean-Charles; Puy, Herve; Karim, Zoubida; Beaumont, Carole; Grandchamp, Bernard; Demant, Peter; Gouya, Laurent

Epistasis in iron metabolism: complex interactions between Cp, Mon1a, and Slc40a1 loci and tissue iron in mice Journal Article

In: Mammalian Genome: Official Journal of the International Mammalian Genome Society, vol. 24, no. 11-12, pp. 427–438, 2013, ISSN: 1432-1777.

Abstract | Links | BibTeX

Lyoumi, Said; Lefebvre, Thibaud; Karim, Zoubida; Gouya, Laurent; Puy, Hervé

PXR-ALAS1: a key regulatory pathway in liver toxicity induced by isoniazid-rifampicin antituberculosis treatment Journal Article

In: Clinics and Research in Hepatology and Gastroenterology, vol. 37, no. 5, pp. 439–441, 2013, ISSN: 2210-741X.

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Moulouel, Boualem; Houamel, Dounia; Delaby, Constance; Tchernitchko, Dimitri; Vaulont, Sophie; Letteron, Philippe; Thibaudeau, Olivier; Puy, Hervé; Gouya, Laurent; Beaumont, Carole; Karim, Zoubida

Hepcidin regulates intrarenal iron handling at the distal nephron Journal Article

In: Kidney International, vol. 84, no. 4, pp. 756–766, 2013, ISSN: 1523-1755.

Abstract | Links | BibTeX

Salles, J. P.; Laurencin-Dalicieux, S.; Conte-Auriol, F.; Briand-Mesange, F.; Gennero, I.

Bone defects in LPA receptor genetically modified mice Journal Article

In: Biochim Biophys Acta, vol. 1831, no. 1, pp. 93-8, 2013, ISSN: 0006-3002 (Print) 0006-3002 (Linking).

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Davignon, J. L.; Hayder, M.; Baron, M.; Boyer, J. F.; Constantin, A.; Apparailly, F.; Poupot, R.; Cantagrel, A.

Targeting monocytes/macrophages in the treatment of rheumatoid arthritis Journal Article

In: Rheumatology (Oxford), vol. 52, no. 4, pp. 590-8, 2013, ISSN: 1462-0332 (Electronic) 1462-0324 (Linking).

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Fruchon, S.; Caminade, A. M.; Abadie, C.; Davignon, J. L.; Combette, J. M.; Turrin, C. O.; Poupot, R.

An azabisphosphonate-capped poly(phosphorhydrazone) dendrimer for the treatment of endotoxin-induced uveitis Journal Article

In: Molecules, vol. 18, no. 8, pp. 9305-16, 2013, ISSN: 1420-3049 (Electronic) 1420-3049 (Linking).

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2012

De Rocca Serra-Nedelec, A.; Edouard, T.; Treguer, K.; Tajan, M.; Araki, T.; Dance, M.; Mus, M.; Montagner, A.; Tauber, M.; Salles, J. P.; Valet, P.; Neel, B. G.; Raynal, P.; Yart, A.

Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature Journal Article

In: Proc Natl Acad Sci U S A, vol. 109, no. 11, pp. 4257-62, 2012, ISSN: 1091-6490 (Electronic) 0027-8424 (Linking).

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Boyer, J. F.; Bongard, V.; Cantagrel, A.; Jamard, B.; Gottenberg, J. E.; Mariette, X.; Davignon, J. L.; Ferrieres, J.; Ruidavets, J. B.; Dallongeville, J.; Arveiler, D.; Cambon-Thomsen, A.; Constantin, A.

Link between traditional cardiovascular risk factors and inflammation in patients with early arthritis: results from a French multicenter cohort Journal Article

In: Arthritis Care Res (Hoboken), vol. 64, no. 6, pp. 872-80, 2012, ISSN: 2151-4658 (Electronic) 2151-464X (Linking).

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2011

Lyoumi, Saïd; Abitbol, Marie; Rainteau, Dominique; Karim, Zoubida; Bernex, Florence; Oustric, Vincent; Millot, Sarah; Lettéron, Philippe; Heming, Nicholas; Guillmot, Laurent; Montagutelli, Xavier; Berdeaux, Gilles; Gouya, Laurent; Poupon, Raoul; Deybach, Jean-Charles; Beaumont, Carole; Puy, Hervé

Protoporphyrin retention in hepatocytes and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria mouse model Journal Article

In: Gastroenterology, vol. 141, no. 4, pp. 1509–1519, 1519.e1–3, 2011, ISSN: 1528-0012.

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Brasse-Lagnel, Carole; Karim, Zoubida; Letteron, Philippe; Bekri, Soumeya; Bado, André; Beaumont, Carole

Intestinal DMT1 cotransporter is down-regulated by hepcidin via proteasome internalization and degradation Journal Article

In: Gastroenterology, vol. 140, no. 4, pp. 1261–1271.e1, 2011, ISSN: 1528-0012.

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Gennero, I.; Laurencin-Dalicieux, S.; Conte-Auriol, F.; Briand-Mesange, F.; Laurencin, D.; Rue, J.; Beton, N.; Malet, N.; Mus, M.; Tokumura, A.; Bourin, P.; Vico, L.; Brunel, G.; Oreffo, R. O.; Chun, J.; Salles, J. P.

Absence of the lysophosphatidic acid receptor LPA1 results in abnormal bone development and decreased bone mass Journal Article

In: Bone, vol. 49, no. 3, pp. 395-403, 2011, ISSN: 1873-2763 (Electronic) 1873-2763 (Linking).

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Boyer, J. F.; Gourraud, P. A.; Cantagrel, A.; Davignon, J. L.; Constantin, A.

Traditional cardiovascular risk factors in rheumatoid arthritis: a meta-analysis Journal Article

In: Joint Bone Spine, vol. 78, no. 2, pp. 179-83, 2011, ISSN: 1778-7254 (Electronic) 1297-319X (Linking).

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Courties, G.; Baron, M.; Presumey, J.; Escriou, V.; van Lent, P.; Scherman, D.; Cantagrel, A.; van den Berg, W. B.; Jorgensen, C.; Apparailly, F.; Davignon, J. L.

Cytosolic phospholipase A2alpha gene silencing in the myeloid lineage alters development of Th1 responses and reduces disease severity in collagen-induced arthritis Journal Article

In: Arthritis Rheum, vol. 63, no. 3, pp. 681-90, 2011, ISSN: 1529-0131 (Electronic) 0004-3591 (Linking).

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Hayder, Myriam; Poupot, Mary; Baron, Michel; Nigon, Delphine; Turrin, Cédric-Olivier; Caminade, Anne-Marie; Majoral, Jean-Pierre; Eisenberg, Robert A.; Fournié, Jean-Jacques; Cantagrel, Alain; Poupot, Rémy; Davignon, Jean-Luc

A Phosphorus-Based Dendrimer Targets Inflammation and Osteoclastogenesis in Experimental Arthritis Journal Article

In: ‎Sci. Transl. Med, vol. 3, no. 81 81ra35, 2011.

BibTeX

Hayder, Myriam; Poupot, Mary; Baron, Michel; Nigon, Delphine; Turrin, Cédric-Olivier; Caminade, Anne-Marie; Majoral, Jean-Pierre; Eisenberg, Robert A.; Fournié, Jean-Jacques; Cantagrel, Alain; Poupot, Rémy; Davignon, Jean-Luc

A Phosphorus-Based Dendrimer Targets Inflammation and Osteoclastogenesis in Experimental Arthritis Journal Article

In: ‎Sci. Transl. Med, vol. 3, no. 81 81ra35, 2011.

BibTeX

2010

Millot, Sarah; Andrieu, Valérie; Letteron, Philippe; Lyoumi, Saïd; Hurtado-Nedelec, Margarita; Karim, Zoubida; Thibaudeau, Olivier; Bennada, Samira; Charrier, Jean-Luc; Lasocki, Sigismond; Beaumont, Carole

Erythropoietin stimulates spleen BMP4-dependent stress erythropoiesis and partially corrects anemia in a mouse model of generalized inflammation Journal Article

In: Blood, vol. 116, no. 26, pp. 6072–6081, 2010, ISSN: 1528-0020.

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Davignon, J. L.; Boyer, J. F.; Jamard, B.; Nigon, D.; Constantin, A.; Cantagrel, A.

Maintenance of cytomegalovirus-specific CD4pos T-cell response in rheumatoid arthritis patients receiving anti-tumor necrosis factor treatments Journal Article

In: Arthritis Res Ther, vol. 12, no. 4, pp. R142, 2010, ISSN: 1478-6362 (Electronic) 1478-6354 (Linking).

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2009

Szutkowska, Marta; Vernimmen, Catherine; Debaix, Huguette; Devuyst, Olivier; Friedlander, Gérard; Karim, Zoubida

Zeta-crystallin mediates the acid pH-induced increase of BSC1 cotransporter mRNA stability Journal Article

In: Kidney International, vol. 76, no. 7, pp. 730–738, 2009, ISSN: 1523-1755.

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2008

Karim, Zoubida; Gérard, Bénédicte; Bakouh, Naziha; Alili, Rohia; Leroy, Christine; Beck, Laurent; Silve, Caroline; Planelles, Gabrielle; Urena-Torres, Pablo; Grandchamp, Bernard; Friedlander, Gérard; Prié, Dominique

NHERF1 mutations and responsiveness of renal parathyroid hormone Journal Article

In: The New England Journal of Medicine, vol. 359, no. 11, pp. 1128–1135, 2008, ISSN: 1533-4406.

Abstract | Links | BibTeX

2006

Gallazzini, Morgan; Karim, Zoubida; Bichara, Maurice

Regulation of ROMK (Kir 1.1) channel expression in kidney thick ascending limb by hypertonicity: role of TonEBP and MAPK pathways Journal Article

In: Nephron. Physiology, vol. 104, no. 4, pp. 126–135, 2006, ISSN: 1660-2137.

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Bichara, Maurice; Attmane-Elakeb, Amel; Brown, Dennis; Essig, Marie; Karim, Zoubida; Muffat-Joly, Martine; Micheli, Laetitia; Eude-Le Parco, Isabelle; Cluzeaud, Françoise; Peuchmaur, Michel; Bonvalet, Jean-Pierre; Poirier, Françoise; Farman, Nicolette

Exploring the role of galectin 3 in kidney function: a genetic approach Journal Article

In: Glycobiology, vol. 16, no. 1, pp. 36–45, 2006, ISSN: 0959-6658.

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2005

Karim, Zoubida; Szutkowska, Marta; Vernimmen, Catherine; Bichara, Maurice

Renal handling of NH3/NH4+: recent concepts Journal Article

In: Nephron. Physiology, vol. 101, no. 4, pp. p77–81, 2005, ISSN: 1660-2137.

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2003

Karim, Zoubida; Attmane-Elakeb, Amel; Sibella, Valérie; Bichara, Maurice

Acid pH increases the stability of BSC1/NKCC2 mRNA in the medullary thick ascending limb Journal Article

In: Journal of the American Society of Nephrology: JASN, vol. 14, no. 9, pp. 2229–2236, 2003, ISSN: 1046-6673.

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2002

Karim, Zoubida; Attmane-Elakeb, Amel; Bichara, Maurice

Renal handling of NH4+ in relation to the control of acid-base balance by the kidney Journal Article

In: Journal of Nephrology, vol. 15 Suppl 5, pp. S128–134, 2002, ISSN: 1121-8428.

Abstract | BibTeX

Social impact

The team’s projects are dedicated to the study of the pathophysiology of chronic inflammatory diseases and the development of biotherapies. An important focus concerns the study of neuroinflammation in adult and pediatric neurodegenerative diseases (Sanfilippo syndrome), in pediatric endocrinology diseases such as Prader Willi syndrome (PWS). We are also interested in the inflammation of bone and joint diseases such as rheumatoid arthritis and in the anemia of inflammation, a phenotype observed in all chronic inflammatory diseases. The strength of our team is to bring together researchers and clinicians from the CHU who are in great demand in reference centers for metabolic diseases, the reference center of the PWS, rheumatology department of the Toulouse University Hospital. This proximity allows us to be a driving force in a number of protocols linked to clinical research trials. We are also principal investigators of several clinical trials under development (oxytocin in PWS, gene therapy in Sanfilippo syndrome). Finally, we are developing innovative anti-inflammatory approaches using one of the phosphorus dendrimers which are immunomodulatory molecules targeting myeloid cells by activating them towards an anti-inflammatory response and another part of the saccharide derivatives targeting the TLR4 receptor of the response of innate immune system. Targeting hepcidin and/or iron retrieval, is also currently investigated as new approaches for Sanfilippo syndrome and rheumatoid arthritis. All these molecules provide therapeutic possibilities for inflammatory diseases that have not yet been explored.

Collaborations

Locals :

  • Dr. Muriel BLANZAT, Laboratoire des IMRCP, Toulouse.
  • Dr. Anne-Marie CAMINADE et Dr. Cédric-Olivier TURRIN, Laboratoire de Chimie de Coordination, Toulouse
  • Dr. Nicolas FAZILLEAU, équipe 4, CPTP, Toulouse
  • Dr. Camille LAURENT, équipe 7 CRCT, Toulouse
  • Pr. Bernard PAYRASTRE, équipe 11, I2MC, Toulouse
  • Dr. Véronique PONS, équipe 8, l’I2MC, Toulouse
  • Dr. Abdelhadi SAOUDI, équipe 5, CPTP, Toulouse
  • Dr. Guillaume TABOURET, École Nationale Vétérinaire de Toulouse, INRA UMR1225, Toulouse
  • Dr. Armelle YART, équipe 3, l’I2MC, Toulouse

Nationals :

  • Dr. Daniel BOUVARD, Institut Albert Bonniot, Site Santé, GRENOBLE.
  • Dr. Hélène CAVÉ, Département de Génétique, CHU Paris – Hôpital Robert Debré, PARIS.
  • Fabienne COURY, Département de Rhumatologie, centre hospitalier Lyon Sud, 69495 Pierre-Bénite; Université Lyon 1, 69000
  • Lyon, INSERM, UMR1033, SFR Santé Lyon-Est, LYON.
  • Dr. Olivier PEYRUCHAUD, INSERM, UMR1033, SFR Santé Lyon-Est, LYON.

Internationals:

  • Pr. Jerold CHUN, the Scripps Research institute, Department of Neuroscience, California Campus, La Jolla, USA.
  • Pr. Eduardo FERNANDEZ-MEGIA, « Centro Singular de Investigación en Química iolóxica e Materiais Moleculares » (CIQUS), Universidade de Santiago de Compostela, SPAIN.
  • Dr. Jane GROGAN, Genentech, 1 DNA Way, South San Francisco, CA 94080, USA.
  • Dr. Andrey KRUGLOV, Dr. Sergei NEDOSPASOV, Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia. Lomonosov Moscow State University, Moscow, RUSSIA. German Rheumatism Research Center (DRFZ), Berlin, GERMANY.
  • Pr. Rudolph LEIBEL, Division of Molecular Genetics and the Naomi Berrie Diabetes Center, Columbia University, NYC, USA.
  • Dr. Giulio G. MUCCIOLI, Université catholique de Louvain, Bruxelles, BELGIUM.
  • Dr. Giovanni M. PAVAN, University for Applied Sciences and Arts of Southern Switzerland (SUPSI), Manno, SWITZERLAND.
  • Dr. V. Gaëlle ROULLIN, School of Pharmacy, university of Montréal, Québec, CANADA.
  • Dr. Timofey ROZHDESTVENSKY, Institute of Experimental Pathology (ZMBE), University of Muenster, Von-Esmarch-Str. 56, D-48149 Münster, GERMANY.
Contact us

Partenaires Equipe 5

L'Agence nationale de la recherche

L'Agence nationale de la recherche

Centre de référence maladies rares

Centre de référence maladies rares

Centre de référence du Syndrome de Prader-Willi

Centre de référence du Syndrome de Prader-Willi

Hôpitaux de Toulouse

Hôpitaux de Toulouse

CNRS

CNRS

Fondation maladies rares

Fondation maladies rares

Fondation pour la recherche médicale

Fondation pour la recherche médicale

Hôpital des enfants

Hôpital des enfants

ATIP AVENIR

ATIP AVENIR