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 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 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


Publications

2021

Tauber, Maith{é} ; Hoybye, Charlotte

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

The Lancet Diabetes and Endocrinology, 9 (4), pp. 235–246, 2021, ISSN: 22138595.

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Salles, Juliette ; Lacassagne, Emmanuelle ; Eddiry, Sanaa ; Franchitto, Nicolas ; Salles, Jean Pierre ; Tauber, Maith{é}

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

Molecular Psychiatry, 26 (1), pp. 51–59, 2021, ISSN: 14765578.

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Eddiry, Sanaa ; Diene, Gwenaelle ; Molinas, Catherine ; Salles, Juliette ; Auriol, Fran{ç}oise Conte ; Gennero, Isabelle ; Bieth, Eric ; Skryabin, Boris V; Rozhdestvensky, Timofey S; Burnett, Lisa C; Leibel, Rudolph L; Tauber, Maith{é} ; Salles, Jean Pierre

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

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

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2020

Briand-M{é}sange, Fabienne ; Pons, V{é}ronique ; Allart, Sophie ; Masquelier, Julien ; Chicanne, Ga{ë}tan ; Beton, Nicolas ; Payrastre, Bernard ; Muccioli, Giulio G; Ausseil, J{é}r{ô}me ; 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

Journal of Biological Chemistry, 295 (46), pp. 15767–15781, 2020, ISSN: 1083351X.

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Briand-M{é}sange, Fabienne ; Trudel, St{é}phanie ; Salles, Juliette ; Ausseil, J{é}r{ô}me ; Salles, Jean Pierre ; Chap, Hugues

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

Obesity, 28 (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

Joint Bone Spine, 87 (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

Rheumatology (Oxford), 59 (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

Joint Bone Spine, 88 (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

J Clin Med, 9 (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

Arch Osteoporos, 15 (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

Drug Saf, 43 (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

Osteoporos Int, 31 (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

Bone Rep, 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

J Bone Miner Res, 35 (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

Arthritis Res Ther, 22 (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

Clin Exp Rheumatol, 38 (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

Arthritis Res Ther, 22 (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

Oncotarget, 11 (4), pp. 419–428, 2020, ISSN: 1949-2553.

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Mansour, Ali ; Darwiche, Walaa ; Yaker, Linda ; {Da Nascimento}, Sophie ; Gomila, Cathy ; Rossi, Claire ; Jung, Vincent ; Sonnet, Pascal ; Kamel, Sa{ï}d ; Guerrera, Ida Chiara ; Boullier, Agn{è}s ; Ausseil, J{é}r{ô}me

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

Frontiers in Cell and Developmental Biology, 8 (November), pp. 1–11, 2020, ISSN: 2296634X.

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Beauvieux, Marie Christine ; B{é}rard, Annie M; Aimone-Gastin, Isabelle ; Barb{é}, Fran{ç}oise ; Barguil, Yann ; Collin-Chavagnac, Delphine ; Delacour, Herv{é} ; Delevall{é}e, C{é}line ; Nivet-Antoine, Val{é}rie ; Peoc'h, Katell ; Poupon, Carole ; Schmitt, Fran{ç}ois ; Pi{é}roni, Laurence ; Sapin, Vincent

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

Annales de Biologie Clinique, 78 (3), pp. 269–277, 2020, ISSN: 19506112.

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Hocquemiller, Micha{ë}l ; 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, J{é}r{ô}me ; 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

Molecular Therapy - Methods and Clinical Development, 17 (June), pp. 174–187, 2020, ISSN: 23290501.

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Yaker, Linda ; Kamel, Sa{ï}d ; Ausseil, J{é}r{ô}me ; Boullier, Agn{è}s

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

Toxins, 12 (12), pp. 1–28, 2020, ISSN: 20726651.

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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

Blood, 136 (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

HemaSphere, 4 (5), pp. e459, 2020, ISSN: 2572-9241.

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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

Hemodialysis International. International Symposium on Home Hemodialysis, 24 (2), pp. 188–194, 2020, ISSN: 1542-4758.

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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

Blood, 136 (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

HemaSphere, 4 (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

Hemodialysis International. International Symposium on Home Hemodialysis, 24 (2), pp. 188–194, 2020, ISSN: 1542-4758.

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Barre, Ronan ; Beton, Nicolas ; Batut, Aur{é}lie ; Accabled, Frank ; {Sales de Gauzy}, Jerome ; Auriol, Fran{ç}oise ; 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

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

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Salles, Juliette ; Lacassagne, Emmanuelle ; Benvegnu, Gr{é}goire ; Berthoumieu, Sophie {Ç}abal ; Franchitto, Nicolas ; Tauber, Maith{é}

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

Translational Psychiatry, 10 (1), 2020, ISSN: 21583188.

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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

Molecular Genetics and Metabolism, 128 (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

Molecular Genetics and Metabolism, 128 (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

Molecular Genetics and Metabolism, 128 (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

Molecular Genetics and Metabolism, 128 (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

Molecular Genetics and Metabolism, 128 (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

Molecular Genetics and Metabolism, 128 (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

Nephrology (Carlton, Vic.), 24 (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

Haematologica, 104 (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

Haematologica, 104 (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

Int J Mol Sci, 20 (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

Eur Radiol, 29 (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

Allergol Int, 68 (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

RMD Open, 5 (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

Osteoporos Int, 30 (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

Front Immunol, 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

J Eur Acad Dermatol Venereol, 33 (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

Pharmacogenomics J, 19 (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

Joint Bone Spine, 86 (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

Arthritis Res Ther, 21 (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

Front Immunol, 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

Front Immunol, 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

Biochemical and Biophysical Research Communications, 520 (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

World Journal of Clinical Cases, 7 (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

Science Translational Medicine, 11 (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

American Journal of Human Genetics, 104 (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

Blood, 133 (12), pp. 1358–1370, 2019, ISSN: 1528-0020.

Abstract | Links | BibTeX

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

Biochemical and Biophysical Research Communications, 520 (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

World Journal of Clinical Cases, 7 (15), pp. 1926–1936, 2019, ISSN: 2307-8960.

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

Nephrology (Carlton, Vic.), 24 (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

American Journal of Human Genetics, 104 (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

Blood, 133 (12), pp. 1358–1370, 2019, ISSN: 1528-0020.

Abstract | Links | BibTeX

2018

Moniez, Sophie ; Pienkowski, Catherine ; Lepage, Benoit ; Hamdi, Safouane ; Daudin, Myriam ; Oliver, Isabelle ; Jouret, B{é}atrice ; Cartault, Audrey ; Diene, Gwenaelle ; Verloes, Alain ; Cav{é}, H{é}l{è}ne ; Salles, Jean-Pierre ; Tauber, Maith{é} ; Yart, Armelle ; Edouard, Thomas

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

European Journal of Endocrinology, 179 (6), pp. 409–418, 2018.

Abstract | Links | BibTeX

Poupot, R{é}my ; Goursat, C{é}cile ; Fruchon, S{é}verine

Multivalent nanosystems: targeting monocytes/macrophages. Journal Article

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

Abstract | Links | BibTeX

Tauber, Ma{ï}th{é} ; Diene, Gwenaelle ; Molinas, Catherine

Growth Hormone Treatment for Prader-Willi Syndrome. Journal Article

Pediatric endocrinology reviews : PER, 16 (Suppl 1), pp. 91–99, 2018, ISSN: 1565-4753.

Abstract | Links | BibTeX

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

Glia, 66 (8), pp. 1709–1723, 2018, ISSN: 1098-1136.

Abstract | Links | BibTeX

Tajan, Myl{è}ne ; Pernin-Grandjean, Julie ; Beton, Nicolas ; Gennero, Isabelle ; Capilla, Florence ; Neel, Benjamin G; Araki, Toshiyuki ; Valet, Philippe ; Tauber, Maith{é} ; Salles, Jean-Pierre ; Yart, Armelle ; Edouard, Thomas

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

Human Molecular Genetics, 27 (13), pp. 2276–2289, 2018.

Abstract | Links | BibTeX

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

Neuromuscular disorders: NMD, 28 (7), pp. 564–571, 2018, ISSN: 1873-2364.

Abstract | Links | BibTeX

Fruchon, S{é}verine ; Poupot, R{é}my

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

Molecules (Basel, Switzerland), 23 (6), 2018.

Abstract | Links | BibTeX

Paepegaey, A C; Coupaye, M; Jaziri, A; M{é}nesguen, 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

Endocrine Connections, 7 (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

Human Molecular Genetics, 27 (7), pp. 1164–1173, 2018, ISSN: 1460-2083.

Abstract | Links | BibTeX

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

Porphyria and kidney diseases Journal Article

Clinical Kidney Journal, 11 (2), pp. 191–197, 2018, ISSN: 2048-8505.

Abstract | Links | BibTeX

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

Haematologica, 103 (4), pp. 587–596, 2018, ISSN: 1592-8721.

Abstract | Links | BibTeX

Hayder, Myriam ; Garzoni, Matteo ; Bochicchio, Davide ; Caminade, Anne-Marie ; Couderc, Fran{ç}ois ; Ong-Meang, Varravaddheay ; Davignon, Jean-Luc ; Turrin, C{é}dric-Olivier ; Pavan, Giovanni M; Poupot, R{é}my

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

Biomacromolecules, 19 (3), pp. 712–720, 2018, ISSN: 1526-4602.

Abstract | Links | BibTeX

Poupot, R{é}my ; Bergozza, Dylan ; Fruchon, S{é}verine

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

Materials (Basel, Switzerland), 11 (2), pp. 270, 2018, ISSN: 1996-1944.

Abstract | Links | BibTeX

Allas, Soraya ; Caix{à}s, Assumpta ; Poitou, Christine ; Coupaye, Muriel ; Thuilleaux, Denise ; Lorenzini, Fran{ç}oise ; Diene, Gwena{ë}lle ; Crin{ò}, Antonino ; Illouz, Fr{é}d{é}ric ; Grugni, Graziano ; Potvin, Diane ; Bocchini, Sarah ; Delale, Thomas ; Abribat, Thierry ; Tauber, Maith{é}

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

PLoS ONE, 13 (1), pp. 1–19, 2018, ISSN: 19326203.

Abstract | Links | BibTeX

Thuilleaux, Denise ; Laurier, Virginie ; Copet, Pierre ; Tricot, Julie ; Demeer, Genevi{è}ve ; Mourre, Fabien ; Tauber, Maith{é} ; Jauregi, Joseba

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

American Journal of Medical Genetics, Part A, 176 (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

Glia, 66 (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

Neuromuscul Disord, 28 (7), pp. 564-571, 2018, ISSN: 1873-2364 (Electronic) 0960-8966 (Linking).

Links | BibTeX

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

J Transl Med, 16 (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

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

Abstract | Links | BibTeX

2017

Daher, Raed ; Manceau, Hana ; Karim, Zoubida

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

Presse Medicale (Paris, France: 1983), 46 (12 Pt 2), pp. e272–e278, 2017, ISSN: 2213-0276.

Abstract | Links | BibTeX

Fruchon, S{é}verine ; Poupot, R{é}my

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

Nanomaterials (Basel, Switzerland), 7 (9), pp. 251, 2017, ISSN: 2079-4991.

Abstract | Links | BibTeX

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

The Journal of Biological Chemistry, 292 (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

European Journal of Heart Failure, 19 (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

Haematologica, 102 (2), pp. 260–270, 2017, ISSN: 1592-8721.

Abstract | Links | BibTeX

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

J Clin Invest, 127 (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

PEDIATRICS, 139 (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

Anal Bioanal Chem, 409 (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

J Neuropathol Exp Neurol, 76 (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

Arterioscler Thromb Vasc Biol, 37 (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

Lancet Neurol, 16 (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

Clin Chim Acta, 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

Proceedings of the National Academy of Sciences of the United States of America, 114 (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

PloS One, 12 (3), pp. e0172147, 2017, ISSN: 1932-6203.

Abstract | Links | BibTeX

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

Journal of the American Society of Nephrology: JASN, 28 (6), pp. 1924–1932, 2017, ISSN: 1533-3450.

Abstract | Links | BibTeX

2016

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

Reply Journal Article

Gastroenterology, 151 (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

Gastroenterology, 150 (3), pp. 672–683.e4, 2016, ISSN: 1528-0012.

Abstract | Links | BibTeX

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

Journal of the American Society of Nephrology: JASN, 27 (3), pp. 835–846, 2016, ISSN: 1533-3450.

Abstract | Links | BibTeX

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

Rare microcytic anemias Journal Article

Bulletin De l'Academie Nationale De Medecine, 200 (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

Stem Cell Res, 17 (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

Arthritis Res Ther, 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

Phys Chem Chem Phys, 18 (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

Nanomedicine, 12 (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

Front Aging Neurosci, 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

FASEB journal: official publication of the Federation of American Societies for Experimental Biology, 30 (1), pp. 252–261, 2016, ISSN: 1530-6860.

Abstract | Links | BibTeX

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

Clinical Chemistry and Laboratory Medicine, 53 (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

Clinics and Research in Hepatology and Gastroenterology, 39 (4), pp. 412–425, 2015, ISSN: 2210-741X.

Abstract | Links | BibTeX

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

Human Molecular Genetics, 24 (17), pp. 5015–5023, 2015, ISSN: 1460-2083.

Abstract | Links | BibTeX

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

Kidney International, 88 (2), pp. 386–395, 2015, ISSN: 1523-1755.

Abstract | Links | BibTeX

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

Cell Metabolism, 21 (2), pp. 311–323, 2015, ISSN: 1932-7420.

Abstract | Links | BibTeX

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

Eur J Hum Genet, 23 (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

J Bone Miner Res, 30 (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

Scoliosis, 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

Nat Commun, 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

Nanotoxicology, 9 (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

Journal of Polymer Science Part A: Polymer Chemistry, 53 (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

Nanoscale, 7 (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

J Mol Biol, 427 (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

Brain, 138 (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

J Neurosci Res, 93 (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

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

Abstract | Links | BibTeX

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

American Journal of Human Genetics, 94 (4), pp. 611–617, 2014, ISSN: 1537-6605.

Abstract | Links | BibTeX

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

Int J Obes (Lond), 38 (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

Arthritis Research and Therapy, 16 (R98), 2014.

BibTeX

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

Mammalian Genome: Official Journal of the International Mammalian Genome Society, 24 (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

Clinics and Research in Hepatology and Gastroenterology, 37 (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

Kidney International, 84 (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

Biochim Biophys Acta, 1831 (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

Rheumatology (Oxford), 52 (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

Molecules, 18 (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

Proc Natl Acad Sci U S A, 109 (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

Arthritis Care Res (Hoboken), 64 (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

Gastroenterology, 141 (4), pp. 1509–1519, 1519.e1–3, 2011, ISSN: 1528-0012.

Abstract | Links | BibTeX

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

Gastroenterology, 140 (4), pp. 1261–1271.e1, 2011, ISSN: 1528-0012.

Abstract | Links | BibTeX

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

Bone, 49 (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

Joint Bone Spine, 78 (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

Arthritis Rheum, 63 (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

‎Sci. Transl. Med, 3 (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

‎Sci. Transl. Med, 3 (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

Blood, 116 (26), pp. 6072–6081, 2010, ISSN: 1528-0020.

Abstract | Links | BibTeX

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

Arthritis Res Ther, 12 (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

Kidney International, 76 (7), pp. 730–738, 2009, ISSN: 1523-1755.

Abstract | Links | BibTeX

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

The New England Journal of Medicine, 359 (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

Nephron. Physiology, 104 (4), pp. 126–135, 2006, ISSN: 1660-2137.

Abstract | Links | BibTeX

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

Glycobiology, 16 (1), pp. 36–45, 2006, ISSN: 0959-6658.

Abstract | Links | BibTeX

2005

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

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

Nephron. Physiology, 101 (4), pp. p77–81, 2005, ISSN: 1660-2137.

Abstract | Links | BibTeX

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

Journal of the American Society of Nephrology: JASN, 14 (9), pp. 2229–2236, 2003, ISSN: 1046-6673.

Abstract | Links | BibTeX

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

Journal of Nephrology, 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.

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

Inserm

Inserm

La région Occitanie

La région Occitanie

UT3

UT3