Julien Fauré

42
Documents

Publications

Publications

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-04789691 v1
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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 Rendu et al.
Acta Neuropathologica Communications, 2022, 10 (1), pp.101. ⟨10.1186/s40478-022-01400-0⟩
Article dans une revue hal-03820052 v1
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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 Dobrzynski et al.
Journal of Medical Genetics, 2021, 58 (9), pp.602-608. ⟨10.1136/jmedgenet-2019-106714⟩
Article dans une revue hal-02964560 v1

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-Buisson et al.
Frontiers in Immunology, 2021, 12, pp.639226. ⟨10.3389/fimmu.2021.639226⟩
Article dans une revue hal-03186791 v1
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Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome

Pauline Le Tanno , Mathilde Folacci , Jean Revilloud , Laurence Faivre , Gabriel Laurent et al.
Frontiers in Genetics, 2021, 12, ⟨10.3389/fgene.2021.773177⟩
Article dans une revue hal-03478814 v1
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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Valérie Biancalana , John Rendu , Annabelle Chaussenot , Helen Mecili , Eric Bieth et al.
Acta Neuropathologica Communications, 2021, 9 (1), pp.155. ⟨10.1186/s40478-021-01254-y⟩
Article dans une revue hal-03613310 v1

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 Pidard et al.
British Journal of Haematology, 2021, 192 (5), pp.909-921. ⟨10.1111/bjh.17346⟩
Article dans une revue hal-04463208 v1
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In vivo RyR1 reduction in muscle triggers a core-like myopathy

Laurent Pelletier , Anne Petiot , Julie Brocard , Benoit Giannesini , Diane Giovannini et al.
Acta Neuropathologica Communications, 2020, 8 (1), ⟨10.1186/s40478-020-01068-4⟩
Article dans une revue hal-03357440 v2

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-Buisson et al.
Clinical and Experimental Immunology, 2020, ⟨10.1111/cei.13520⟩
Article dans une revue hal-02974713 v1
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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Sandra Donkervoort , Carl Kutzner , Ying Hu , Xavière Lornage , John Rendu et al.
American Journal of Human Genetics, 2020, 107 (6), pp.1078-1095. ⟨10.1016/j.ajhg.2020.11.002⟩
Article dans une revue hal-03668017 v1
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New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes

Stéphanie Bauché , Alain Sureau , Damien Sternberg , John Rendu , Céline Buon et al.
Neurology Genetics, 2020, 6 (6), pp.e534. ⟨10.1212/NXG.0000000000000534⟩
Article dans une revue inserm-03555554 v1
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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-03486192 v1
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‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

Matteo Garibaldi , John Rendu , Julie Brocard , Emmanuelle Lacène , Julien Fauré et al.
Acta Neuropathologica Communications, 2019, 7 (3), ⟨10.1186/s40478-018-0655-5⟩
Article dans une revue hal-01973947 v1
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TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia

Fabien Vanden Abeele , Sabine Lotteau , Sylvie Ducreux , Charlotte Dubois , Nicole Monnier et al.
Genetics in Medicine, 2019, 21 (2), pp.441-450. ⟨10.1038/s41436-018-0066-9⟩
Article dans une revue hal-02475163 v1

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-03884888 v1
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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 Chicanne et al.
Human Mutation, 2017, 38 (2), pp.152-159. ⟨10.1002/humu.23139⟩
Article dans une revue hal-03828357 v1
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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 Martinez et al.
EMBO Molecular Medicine, 2017, 9 (8), pp.1132-1149. ⟨10.15252/emmm.201607461⟩
Article dans une revue hal-01741725 v1

Corrigendum to "22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd-7th October 2017" [Neuromuscular Disorders 27S2 (2017) S51-S270]

J. Rendu , C. Bosson , N. Roux-Buisson , A. Chatagnon , B. Bankole et al.
Neuromuscular Disorders, 2017, 27 (11), pp.e1. ⟨10.1016/j.nmd.2017.09.014⟩
Article dans une revue hal-01743651 v1
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Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)

Andreea M. Seferian , Edoardo Malfatti , Caroline Bosson , Laurent Pelletier , Jessica Taytard et al.
Neuromuscular Disorders, 2016, 26 (10), pp.712 - 716. ⟨10.1016/j.nmd.2016.07.011⟩
Article dans une revue hal-01402113 v1

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-Goulet et al.
Human Molecular Genetics, 2016, 25 (8), pp.1559--1573. ⟨10.1093/hmg/ddw033⟩
Article dans une revue hal-01295646 v1
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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 Mamchaoui et al.
Journal of Neuromuscular Diseases, 2015, 202 (4), pp.421-432. ⟨10.3233/JND-150073⟩
Article dans une revue inserm-01216714 v1
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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 Deharo et al.
Heart Rhythm, 2014, pp.1999-2009
Article dans une revue inserm-01120324 v1

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Johann Böhm , Valerie Biancalana , Edoardo Malfatti , Nicolas Dondaine , Catherine Koch et al.
Brain - A Journal of Neurology , 2014, 137 (12), pp.3160-3170. ⟨10.1093/brain/awu272⟩
Article dans une revue hal-04981583 v1
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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-Rouxel et al.
Human Gene Therapy, 2013, 24 (7), pp.702-13. ⟨10.1089/hum.2013.052⟩
Article dans une revue inserm-00904818 v1
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The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

Klaus Dieterich , Susana Quijano-Roy , Nicole Monnier , Jie Zhou , Julien Fauré et al.
Human Molecular Genetics, 2013, 22 (8), pp.1483-92. ⟨10.1093/hmg/dds514⟩
Article dans une revue inserm-00904747 v1
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Role of triadin in the organization of reticulum membrane at the muscle triad.

Anne Fourest-Lieuvin , John Rendu , Alexis Osseni , Karine Pernet-Gallay , Daniella Rossi et al.
Journal of Cell Science, 2012, 125 (Pt 14), pp.3443-53. ⟨10.1242/jcs.100958⟩
Article dans une revue inserm-00763148 v1
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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 Brocard et al.
Human Molecular Genetics, 2012, 21 (12), pp.2759-67. ⟨10.1093/hmg/dds104⟩
Article dans une revue inserm-00763211 v1
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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 Goldenberg et al.
Human Mutation, 2011, 32 (9), pp.995-999 ⟨10.1002/humu.21537⟩
Article dans une revue istex inserm-00644146 v1
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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 Fauré et al.
Biochemistry, 2010, 49 (29), pp.6130-5. ⟨10.1021/bi100796v⟩
Article dans une revue inserm-00567166 v1
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Triadin deletion induces impaired skeletal muscle function.

Sarah Oddoux , Julie Brocard , Annie Schweitzer , Peter Szentesi , Benoit Giannesini et al.
Journal of Biological Chemistry, 2009, 284 (50), pp.34918-29. ⟨10.1074/jbc.M109.022442⟩
Article dans une revue inserm-00516073 v1
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Triadin: what possible function 20 years later?

Isabelle Marty , Julien Fauré , Anne Fourest-Lieuvin , Stéphane Vassilopoulos , Sarah Oddoux et al.
The Journal of Physiology, 2009, 587 (Pt 13), pp.3117-21. ⟨10.1113/jphysiol.2009.171892⟩
Article dans une revue inserm-00410303 v1
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[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-00516977 v1

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-00535737 v1
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Exosomes are released by cultured cortical neurones.

Julien Fauré , Gaëlle Lachenal , Magali Court , Johannes Hirrlinger , Christine Chatellard-Causse et al.
Molecular and Cellular Neuroscience, 2006, 31 (4), pp.642-8. ⟨10.1016/j.mcn.2005.12.003⟩
Article dans une revue inserm-00393925 v1
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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 Lafanechère et al.
Journal of Cell Biology, 2006, 174 (6), pp.839-49. ⟨10.1083/jcb.200512058⟩
Article dans une revue inserm-00380096 v1
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Endosome-to-cytosol transport of viral nucleocapsids.

Isabelle Le Blanc , Pierre-Philippe Luyet , Véronique Pons , Charles Ferguson , Neil Emans et al.
Nature Cell Biology, 2005, 7 (7), pp.653-64. ⟨10.1038/ncb1269⟩
Article dans une revue inserm-00381829 v1

Crystal structure of the Rac1-RhoGDI complex involved in nadph oxidase activation.

S. Grizot , J. Fauré , F. Fieschi , P. V. Vignais , M. C. Dagher et al.
Biochemistry, 2001, 40 (34), pp.10007-13
Article dans une revue hal-00820774 v1

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. Massenet et al.
Biochemistry, 2001, 40 (10), pp.3127-33
Article dans une revue hal-00820784 v1

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-00820776 v1

Mechanism of NADPH oxidase activation by the Rac/Rho-GDI complex.

N. Di-Poï , J. Fauré , S. Grizot , G. Molnár , E. Pick et al.
Biochemistry, 2001, 40 (34), pp.10014-22
Article dans une revue hal-00820772 v1

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-00820791 v1
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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-00954592 v1