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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
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Pkh1/2-dependent phosphorylation of Vps27 regulates ESCRT-I recruitment to endosomes
Joelle Morvan
,
Bruno Rinaldi
,
Sylvie Friant
Journal articles
hal-02378754v1
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Increased ubiquitin-dependent degradation can replace the essential requirement for heat shock protein induction.
Sylvie Friant
,
Karsten D Meier
,
Howard Riezman
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.
Journal articles
hal-03509022v1
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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.
Journal articles
hal-03932214v1
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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
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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.
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.
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.
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 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
Journal articles
hal-01771887v1
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WANTED – Dead or alive: Myotubularins, a large disease-associated protein family
Matthieu Raess
,
Sylvie Friant
,
Belinda S. Cowling
,
Jocelyn Laporte
Journal articles
hal-02378733v1
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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
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Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy
Matthieu Raess
,
Belinda Cowling
,
D Bertazzi
,
C Kretz
,
J Xuereb
et al.
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 articles
hal-02370128v1
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Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation
Belinda S. Cowling
,
Ivana Prokic
,
Hichem Tasfaout
,
Aymen Rabai
,
Frédéric Humbert
et al.
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.
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.
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.
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.
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.
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.
Journal articles
hal-02370092v1
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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.
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 articles
hal-03024718v1
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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.
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.
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.
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.
Journal articles
hal-02371583v1
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