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authIdHal_s : sylvie-friant

WD40-repeat 47 is essential for brain development via microtubule-mediated processes and autophagy

Binnaz Yalcin , Meghna Kannan , Christel Wagner , Marna Roos , Bruno Rinaldi et al.
51st European Society of Human Genetics (ESHG) Conference, May 2017, Milano, Italy. pp.111
Conference papers hal-02378786v1

Pkh1/2-dependent phosphorylation of Vps27 regulates ESCRT-I recruitment to endosomes

Joelle Morvan , Bruno Rinaldi , Sylvie Friant
Molecular Biology of the Cell, 2012, 23 (20), pp.4054-4064. ⟨10.1091/mbc.E12-01-0001⟩
Journal articles hal-02378754v1

Increased ubiquitin-dependent degradation can replace the essential requirement for heat shock protein induction.

Sylvie Friant , Karsten D Meier , Howard Riezman
EMBO Journal, 2003, 22 (15), pp.3783-91. ⟨10.1093/emboj/cdg375⟩
Journal articles hal-00153225v1
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A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia

Amjad Khan , Anne Molitor , Sylvain Mayeur , Gaoqun Zhang , Bruno Rinaldi et al.
Movement Disorders, 2022, 37 (2), pp.365-374. ⟨10.1002/mds.28861⟩
Journal articles hal-03509022v1

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

Véronique Geoffroy , Corinne Stoetzel , Sophie Scheidecker , Elise Schaefer , Isabelle Perrault et al.
Human Mutation, 2018, 39 (7), pp.983-992. ⟨10.1002/humu.23539⟩
Journal articles hal-03932214v1

Expanding the phenotypic spectrum in neurological disorders associated with mutations in KARS gene (lysyl-tRNA synthetase) by the identification of a novel mutation

Sophie Scheidecker , Séverine Bär , Corinne Stoetzel , Véronique Geoffroy , Béatrice Lannes et al.
52nd European Society of Human Genetics (ESHG) Conference, Jun 2019, Gothenburg, Sweden. pp.283
Conference papers hal-02378865v1

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Gina L. O’grady , Heather A. Best , Tamar E. Sztal , Vanessa Schartner , Myriam Sanjuan-Vazquez et al.
American Journal of Human Genetics, 2016, 99 (5), pp.1086-1105. ⟨10.1016/j.ajhg.2016.09.005⟩
Journal articles hal-02371579v1
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Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Diane Doummar , Christel Dentel , Romane Lyautey , Julia Metreau , Boris Keren et al.
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0641-9⟩
Journal articles hal-02904062v1
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Lsb1 Is a Negative Regulator of Las17 Dependent Actin Polymerization Involved in Endocytosis

Matthias Spiess , Johan-Owen de Craene , Alphé E Michelot , Bruno Rinaldi , Aline Huber et al.
PLoS ONE, 2013, 8 (4), pp.61147 - 61147. ⟨10.1371/journal.pone.0061147⟩
Journal articles hal-01771803v1
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Myotubularin MTM1 Involved in Centronuclear Myopathy and its Roles in Human and Yeast Cells

Dimitri Bertazzi , Johan-Owen de Craene , Sylvie Friant
Journal of Molecular and Genetic Medicine, 2015, 08 (02), ⟨10.4172/1747-0862.1000116⟩
Journal articles hal-01771797v1
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Phosphoinositides, Major Actors in Membrane Trafficking and Lipid Signaling Pathways

Johan-Owen de Craene , Dimitri Bertazzi , Séverine Bär , Sylvie Friant
International Journal of Molecular Sciences, 2017, 18 (3), pp.634 - 634. ⟨10.3390/ijms18030634⟩
Journal articles hal-01771887v1

WANTED – Dead or alive: Myotubularins, a large disease-associated protein family

Matthieu Raess , Sylvie Friant , Belinda S. Cowling , Jocelyn Laporte
Advances in Biological Regulation, 2017, 63, pp.49-58. ⟨10.1016/j.jbior.2016.09.001⟩
Journal articles hal-02378733v1

Ent3p Is a PtdIns(3,5)P2 effector required for protein sorting to the multivesicular body.

Sylvie Friant , Eve Isabelle Pécheur , Anne Eugster , Fabrice Michel , Yaya Lefkir et al.
Developmental Cell, 2003, 5 (3), pp.499-511
Journal articles hal-00153224v1

Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy

Matthieu Raess , Belinda Cowling , D Bertazzi , C Kretz , J Xuereb et al.
Human Molecular Genetics, 2017, 26 (19), pp.3736-3748. ⟨10.1093/hmg/ddx258⟩
Journal articles hal-02371578v1
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Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Markus T. Sainio , Salla Välipakka , Bruno Rinaldi , Helena Lapatto , Anders Paetau et al.
Journal of Neurology, 2019, 266 (2), pp.353-360. ⟨10.1007/s00415-018-9137-8⟩
Journal articles hal-02370128v1

Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation

Belinda S. Cowling , Ivana Prokic , Hichem Tasfaout , Aymen Rabai , Frédéric Humbert et al.
Journal of Clinical Investigation, 2017, 127 (12), pp.4477-4487. ⟨10.1172/JCI90542⟩
Journal articles hal-02378704v1
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Study of the Plant COPII Vesicle Coat Subunits by Functional Complementation of Yeast Saccharomyces cerevisiae Mutants

Johan-Owen de Craene , Fanny Courte , Bruno Rinaldi , Chantal Fitterer , Mari Carmen Herranz et al.
PLoS ONE, 2014, 9 (2), pp.e90072. ⟨10.1371/journal.pone.0090072⟩
Journal articles hal-01771805v1
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Nonconventional localizations of cytosolic aminoacyl-tRNA synthetases in yeast and human cells

Sylvain Debard , Gaétan Bader , Johan-Owen de Craene , Ludovic Enkler , Séverine Bär et al.
Methods, 2017, 113, pp.91 - 104. ⟨10.1016/j.ymeth.2016.09.017⟩
Journal articles hal-01771885v1
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Yeast as a Model to Understand Actin-Mediated Cellular Functions in Mammals—Illustrated with Four Actin Cytoskeleton Proteins

Zain Akram , Ishtiaq Ahmed , Heike Mack , Ramandeep Kaur , Richard C Silva et al.
Cells, 2020, 9 (3), pp.672. ⟨10.3390/cells9030672⟩
Journal articles hal-02904086v1
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A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

Corinne Stoetzel , Séverine Bär , Johan-Owen de Craene , Sophie Scheidecker , Christelle Etard et al.
Nature Communications, 2016, 7, ⟨10.1038/ncomms13586⟩
Journal articles hal-01771886v1
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Evolutionary analysis of the ENTH/ANTH/VHS protein superfamily reveals a coevolution between membrane trafficking and metabolism.

Johan-Owen de Craene , Raymond Ripp , Odile Lecompte , Julie D. Thompson , Olivier Poch et al.
BMC Genomics, 2012, 13 (1), pp.297. ⟨10.1186/1471-2164-13-297⟩
Journal articles inserm-00742840v1
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A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

Virginie Laugel-Haushalter , Séverine Bär , Elise Schaefer , Corinne Stoetzel , Véronique Geoffroy et al.
Frontiers in Genetics, 2019, 10, pp.504. ⟨10.3389/fgene.2019.00504⟩
Journal articles hal-02370092v1

Ent5p is required with Ent3p and Vps27p for ubiquitin-dependent protein sorting into the multivesicular body.

Anne Eugster , Eve-Isabelle Pécheur , Fabrice Michel , Barbara Winsor , François Letourneur et al.
Molecular Biology of the Cell, 2004, 15 (7), pp.3031-41. ⟨10.1091/mbc.E03-11-0793⟩
Journal articles hal-00153222v1
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NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation and hyperinflammation Running title: NCKAP1L deficiency

Carla Noemi Castro , Michelle Rosenzwajg , Raphael Carapito , Mohammad Shahrooei , Martina Konantz et al.
Journal of Experimental Medicine, 2020, ⟨10.1084/jem.20192275⟩
Journal articles hal-03024718v1

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy

Meghna Kannan , Efil Bayam , Christel Wagner , Bruno Rinaldi , Perrine Kretz et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (44), pp.E9308-E9317. ⟨10.1073/pnas.1713625114⟩
Journal articles hal-02378716v1
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Assigning mitochondrial localization of dual localized proteins using a yeast Bi-Genomic Mitochondrial-Split-GFP

Gaétan Bader , Ludovic Enkler , Yuhei Araiso , Marine Hemmerle , Krystyna Binko et al.
Journal articles hal-02898815v1
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Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Ariane Kröll-Hermi , Frédéric Ebstein , Corinne Stoetzel , Véronique Geoffroy , Elise Schaefer et al.
EMBO Molecular Medicine, 2020, 12 (7), ⟨10.15252/emmm.201911861⟩
Journal articles hal-02903912v1
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Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.

Leonela Amoasii , Dimitri L. Bertazzi , Hélène Tronchère , Karim Hnia , Gaëtan Chicanne et al.
PLoS Genetics, 2012, 8 (10), pp.e1002965. ⟨10.1371/journal.pgen.1002965⟩
Journal articles inserm-01011824v1
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Phosphoinositides: lipidic essential actors in the intracellular traffic.

Dimitri Bertazzi , Johan-Owen de Craene , Séverine Bär , Myriam Sanjuan-Vazquez , Matthieu A Raess et al.
Biologie Aujourd'hui, 2015, 209 (1), pp.97-109. ⟨10.1051/jbio/2015006⟩
Journal articles istex hal-01771798v1
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Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

Véronique Geoffroy , Corinne Stoetzel , Sophie Scheidecker , Elise Schaefer , Isabelle Perrault et al.
Human Mutation, 2018, 39 (7), pp.983-992. ⟨10.1002/humu.23539⟩
Journal articles hal-02371583v1