Julien Fauré

Publications

Article dans une revue (42)

Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype Margaux Melka,Ludivine Rotard,Caroline Benstaali,Julie Brocard,Benoit Giannesiniet al. Journal of Neuromuscular Diseases, 2025, 3 (6), ⟨10.1177/22143602251339354⟩ Article dans une revue hal-05370307v1
Gene therapies for RyR1-related myopathies Isabelle Marty,Mathilde Beaufils,Julien Fauré,John Rendu Current Opinion in Pharmacology, 2023, 68, pp.102330. ⟨10.1016/j.coph.2022.102330⟩ Article dans une revue hal-04789691v1
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies Clémence Labasse,Guy Brochier,Ana-Lia Taratuto,Bruno Cadot,John Renduet al. Acta Neuropathologica Communications, 2022, 10 (1), pp.101. ⟨10.1186/s40478-022-01400-0⟩ Article dans une revue hal-03820052v1
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy Justine Géraud,Klaus Dieterich,John Rendu,Emmanuelle Uro Coste,Murielle Dobrzynskiet al. Journal of Medical Genetics, 2021, 58 (9), pp.602-608. ⟨10.1136/jmedgenet-2019-106714⟩ Article dans une revue hal-02964560v1
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course Valérie Biancalana,John Rendu,Annabelle Chaussenot,Helen Mecili,Eric Biethet al. Acta Neuropathologica Communications, 2021, 9 (1), pp.155. ⟨10.1186/s40478-021-01254-y⟩ Article dans une revue hal-03613310v1
Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq Faris Ghalib Bakri,Michelle Mollin,Sylvain Beaumel,Bénédicte Vigne,Nathalie Roux-Buissonet al. Frontiers in Immunology, 2021, 12, pp.639226. ⟨10.3389/fimmu.2021.639226⟩ Article dans une revue hal-03186791v1
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome Pauline Le Tanno,Mathilde Folacci,Jean Revilloud,Laurence Faivre,Gabriel Laurentet al. Frontiers in Genetics, 2021, 12, ⟨10.3389/fgene.2021.773177⟩ Article dans une revue hal-03478814v1
Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome Marion Egot,Dominique Lasne,Sonia Poirault-Chassac,Tristan Mirault,Dominique Pidardet al. British Journal of Haematology, 2021, 192 (5), pp.909-921. ⟨10.1111/bjh.17346⟩ Article dans une revue hal-04463208v1
In vivo RyR1 reduction in muscle triggers a core-like myopathy Laurent Pelletier,Anne Petiot,Julie Brocard,Benoit Giannesini,Diane Giovanniniet al. Acta Neuropathologica Communications, 2020, 8 (1), ⟨10.1186/s40478-020-01068-4⟩ Article dans une revue hal-03357440v2
Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations in CYBB Michelle Mollin,Sylvain Beaumel,Bénédicte Vigne,Julie Brault,Nathalie Roux-Buissonet al. Clinical and Experimental Immunology, 2020, ⟨10.1111/cei.13520⟩ Article dans une revue hal-02974713v1
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores Sandra Donkervoort,Carl Kutzner,Ying Hu,Xavière Lornage,John Renduet al. American Journal of Human Genetics, 2020, 107 (6), pp.1078-1095. ⟨10.1016/j.ajhg.2020.11.002⟩ Article dans une revue hal-03668017v1
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes Stéphanie Bauché,Alain Sureau,Damien Sternberg,John Rendu,Céline Buonet al. Neurology Genetics, 2020, 6 (6), pp.e534. ⟨10.1212/NXG.0000000000000534⟩ Article dans une revue inserm-03555554v1
A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect Marion Masingue,Julien Fauré,Guilhem Solé,Tanya Stojkovic,Sarah Léonard-Louis Neuromuscular Disorders, 2019, 29, pp.75 - 79. ⟨10.1016/j.nmd.2018.10.005⟩ Article dans une revue hal-03486192v1
‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies Matteo Garibaldi,John Rendu,Julie Brocard,Emmanuelle Lacène,Julien Fauréet al. Acta Neuropathologica Communications, 2019, 7 (3), ⟨10.1186/s40478-018-0655-5⟩ Article dans une revue hal-01973947v1
TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia Fabien Vanden Abeele,Sabine Lotteau,Sylvie Ducreux,Charlotte Dubois,Nicole Monnieret al. Genetics in Medicine, 2019, 21 (2), pp.441-450. ⟨10.1038/s41436-018-0066-9⟩ Article dans une revue hal-02475163v1
Pathophysiological Role of Trpv1 In Malignant Hyperthermia: Identification of New Variants Nolwenn Tessier,Mallory Ducrozet,Sylvie Ducreux,Julien Fauré,Fabien van Coppenolle Biomedical Journal of Scientific & Technical Research, 2018, 12 (1), ⟨10.26717/BJSTR.2018.12.002181⟩ Article dans une revue hal-03884888v1
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome John Rendu,Rodrick Montjean,Charles Coutton,Mohnish Suri,Gaetan Chicanneet al. Human Mutation, 2017, 38 (2), pp.152-159. ⟨10.1002/humu.23139⟩ Article dans une revue hal-03828357v1
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia inhomozygotes Zine-Eddine Kherraf,Marie Christou-Kent,Thomas Karaouzene,Amir Amiri-Yekta,Guillaume Martinezet al. EMBO Molecular Medicine, 2017, 9 (8), pp.1132-1149. ⟨10.15252/emmm.201607461⟩ Article dans une revue hal-01741725v1
Corrigendum to &quot;22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd-7th October 2017&quot; [Neuromuscular Disorders 27S2 (2017) S51-S270] J. Rendu,C. Bosson,N. Roux-Buisson,A. Chatagnon,B. Bankoleet al. Neuromuscular Disorders, 2017, 27 (11), pp.e1. ⟨10.1016/j.nmd.2017.09.014⟩ Article dans une revue hal-01743651v1
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease Laurianne Davignon,Claire Chauveau,Cédric Julien,Corinne Dill,Isabelle Duband-Gouletet al. Human Molecular Genetics, 2016, 25 (8), pp.1559--1573. ⟨10.1093/hmg/ddw033⟩ Article dans une revue hal-01295646v1
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) Andreea M. Seferian,Edoardo Malfatti,Caroline Bosson,Laurent Pelletier,Jessica Taytardet al. Neuromuscular Disorders, 2016, 26 (10), pp.712 - 716. ⟨10.1016/j.nmd.2016.07.011⟩ Article dans une revue hal-01402113v1
Functional characterization of a Central Core Disease RyR1 mutation (p.Y4864H) associated with quantitative defect in RyR1 protein Marine Cacheux,Ariane Blum,Muriel Sébastien,Julie Brocard,Kamel Mamchaouiet al. Journal of Neuromuscular Diseases, 2015, 202 (4), pp.421-432. ⟨10.3233/JND-150073⟩ Article dans une revue inserm-01216714v1
Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening. Nathalie Roux-Buisson,Estelle Gandjbakhch,Erwan Donal,Vincent Probst,Jean-Claude Deharoet al. Heart Rhythm, 2014, pp.1999-2009 Article dans une revue inserm-01120324v1
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations Johann Böhm,Valerie Biancalana,Edoardo Malfatti,Nicolas Dondaine,Catherine Kochet al. Brain - A Journal of Neurology , 2014, 137 (12), pp.3160-3170. ⟨10.1093/brain/awu272⟩ Article dans une revue hal-04981583v1
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. Klaus Dieterich,Susana Quijano-Roy,Nicole Monnier,Jie Zhou,Julien Fauréet al. Human Molecular Genetics, 2013, 22 (8), pp.1483-92. ⟨10.1093/hmg/dds514⟩ Article dans une revue inserm-00904747v1
Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy. John Rendu,Julie Brocard,Eric Denarier,Nicole Monnier,France Piétri-Rouxelet al. Human Gene Therapy, 2013, 24 (7), pp.702-13. ⟨10.1089/hum.2013.052⟩ Article dans une revue inserm-00904818v1
Role of triadin in the organization of reticulum membrane at the muscle triad. Anne Fourest-Lieuvin,John Rendu,Alexis Osseni,Karine Pernet-Gallay,Daniella Rossiet al. Journal of Cell Science, 2012, 125 (Pt 14), pp.3443-53. ⟨10.1242/jcs.100958⟩ Article dans une revue inserm-00763148v1
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. Nathalie Roux-Buisson,Marine Cacheux,Anne Fourest-Lieuvin,J. Fauconnier,Julie Brocardet al. Human Molecular Genetics, 2012, 21 (12), pp.2759-67. ⟨10.1093/hmg/dds104⟩ Article dans une revue inserm-00763211v1
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management. Nathalie Roux-Buisson,John Rendu,Isabelle Denjoy,Pascale Guicheney,Alice Goldenberget al. Human Mutation, 2011, 32 (9), pp.995-999 ⟨10.1002/humu.21537⟩ Article dans une revue istex inserm-00644146v1
Caveolin 3 is associated with the calcium release complex and is modified via in vivo triadin modification. Stéphane Vassilopoulos,Sarah Oddoux,Séverine Groh,Marine Cacheux,Julien Fauréet al. Biochemistry, 2010, 49 (29), pp.6130-5. ⟨10.1021/bi100796v⟩ Article dans une revue inserm-00567166v1
Triadin deletion induces impaired skeletal muscle function. Sarah Oddoux,Julie Brocard,Annie Schweitzer,Peter Szentesi,Benoit Giannesiniet al. Journal of Biological Chemistry, 2009, 284 (50), pp.34918-29. ⟨10.1074/jbc.M109.022442⟩ Article dans une revue inserm-00516073v1
Triadin: what possible function 20 years later? Isabelle Marty,Julien Fauré,Anne Fourest-Lieuvin,Stéphane Vassilopoulos,Sarah Oddouxet al. The Journal of Physiology, 2009, 587 (Pt 13), pp.3117-21. ⟨10.1113/jphysiol.2009.171892⟩ Article dans une revue inserm-00410303v1
[Ryanodine receptor type 1: redox state matters] Joël Lunardi,Julien Fauré,Isabelle Marty,Nicole Monnier Médecine/Sciences, 2008, 24 (11), pp.897-9 Article dans une revue inserm-00516977v1
The calcium release complex in skeletal muscle and its associated diseases Julien Fauré,Sarah Oddoux,Isabelle Marty,Lunardi Joël La Revue de Médecine Interne, 2007, 28 (11), pp.801-804 Article dans une revue inserm-00535737v1
Exosomes are released by cultured cortical neurones. Julien Fauré,Gaëlle Lachenal,Magali Court,Johannes Hirrlinger,Christine Chatellard-Causseet al. Molecular and Cellular Neuroscience, 2006, 31 (4), pp.642-8. ⟨10.1016/j.mcn.2005.12.003⟩ Article dans une revue inserm-00393925v1
Tubulin tyrosination is a major factor affecting the recruitment of CAP-Gly proteins at microtubule plus ends. Leticia Peris,Manuel Thery,Julien Fauré,Yasmina Saoudi,Laurence Lafanechèreet al. Journal of Cell Biology, 2006, 174 (6), pp.839-49. ⟨10.1083/jcb.200512058⟩ Article dans une revue inserm-00380096v1
Endosome-to-cytosol transport of viral nucleocapsids. Isabelle Le Blanc,Pierre-Philippe Luyet,Véronique Pons,Charles Ferguson,Neil Emanset al. Nature Cell Biology, 2005, 7 (7), pp.653-64. ⟨10.1038/ncb1269⟩ Article dans une revue inserm-00381829v1
Crystal structure of the Rac1-RhoGDI complex involved in nadph oxidase activation. S. Grizot,J. Fauré,F. Fieschi,P. V. Vignais,M. C. Dagheret al. Biochemistry, 2001, 40 (34), pp.10007-13 Article dans une revue hal-00820774v1
Small angle neutron scattering and gel filtration analyses of neutrophil NADPH oxidase cytosolic factors highlight the role of the C-terminal end of p47phox in the association with p40phox. S. Grizot,N. Grandvaux,F. Fieschi,J. Fauré,C. Massenetet al. Biochemistry, 2001, 40 (10), pp.3127-33 Article dans une revue hal-00820784v1
Interactions between Rho GTPases and Rho GDP dissociation inhibitor (Rho-GDI). J. Fauré,M. C. Dagher Biochimie, 2001, 83 (5), pp.409-14 Article dans une revue hal-00820776v1
Mechanism of NADPH oxidase activation by the Rac/Rho-GDI complex. N. Di-Poï,J. Fauré,S. Grizot,G. Molnár,E. Picket al. Biochemistry, 2001, 40 (34), pp.10014-22 Article dans une revue hal-00820772v1
Topological organization of the cytosolic activating complex of the superoxide-generating NADPH-oxidase. Pinpointing the sites of interaction between p47phoz, p67phox and p40phox using the two-hybrid system. Alexandra Fuchs,M. C. Dagher,J. Fauré,P. V. Vignais BBA - Biochimica et Biophysica Acta, 1996, 1312 (1), pp.39-47 Article dans une revue hal-00820791v1

Chapitre d'ouvrage (1)

Ryanodine receptor 1 and associated pathologies Julien Fauré,Joël Lunardi,Nicole Monnier,Isabelle Marty Weiss, N. Koschak, A. Pathologies of calcium channels, Springer, pp.167-187, 2014, ⟨10.1007/978-3-642-40282-1_9⟩ Chapitre d'ouvrage inserm-00954592v1