Jocelyn LAPORTE

Publications

• 2022

  • Antagonistic control of active surface integrins by myotubularin and phosphatidylinositol 3-kinase C2β in a myotubular myopathy model

    • Paula Samsó
    • Philipp A. Koch
    • York Posor
    • Wen-Ting Lo
    • Hassane Belabed
    • Marc Nazare
    • Jocelyn Laporte
    • Volker Haucke

    Proceedings of the National Academy of Sciences ; Volume: 119

    HAL DOI

  • Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model

    • Qifei Li
    • Jasmine Lin
    • Jeffrey J. Widrick
    • Shiyu Luo
    • Gu Li
    • Yuanfan Zhang
    • Jocelyn Laporte
    • Mark A. Perrella
    • Xiaoli Liu
    • Pankaj B. Agrawal

    JCI Insight ; Volume: 7

    HAL DOI

  • Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

    • Hong Joo Kim
    • Payam Mohassel
    • Sandra Donkervoort
    • Lin Guo
    • Kevin O’donovan
    • Maura Coughlin
    • Xaviere Lornage
    • Nicola Foulds
    • Simon R Hammans
    • A. Reghan Foley
    • Charlotte M Fare
    • Alice F Ford
    • Masashi Ogasawara
    • Aki Sato
    • Aritoshi Iida
    • Pinki Munot
    • Gautam Ambegaonkar
    • Rahul Phadke
    • Dominic G O’donovan
    • Rebecca Buchert
    • ...

    Nature Communications ; Volume: 13 ; Page: 2306

    HAL DOI

  • BIN1 modulation in vivo rescues dynamin-related myopathy

    • Valentina Maria Lionello
    • Christine Kretz
    • Evelina Edelweiss
    • Corinne Crucifix
    • Raquel Gómez-Oca
    • Nadia Messaddeq
    • Suzie Buono
    • Pascale Koebel
    • Xènia Massana Muñoz
    • Nadège Diedhiou
    • Belinda Cowling
    • Marc Bitoun
    • Jocelyn Laporte

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 119

    HAL DOI

  • A dog model for centronuclear myopathy (CNM) carrying the most common DNM2 mutation

    • Johann Böhm
    • Inès Barthélémy
    • Charlène Landwerlin
    • Nicolas Blanchard-Gutton
    • Frédéric Relaix
    • Stéphane Blot
    • Jocelyn Laporte
    • Laurent Tiret

    Disease Models & Mechanisms ; Volume: 15 ; Page: dmm049219

    HAL DOI

  • Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy

    • Suzie Buono
    • Arnaud Monseur
    • Alexia Menuet
    • Anne Robé
    • Catherine Koch
    • Jocelyn Laporte
    • Leen Thielemans
    • Marion Depla
    • Belinda S. Cowling

    Disease Models & Mechanisms ; Volume: 15 ; Page: dmm049284

    HAL DOI

  • FP.05 From the Muscle Atlas to an AI-based diagnostic tool

    • Corentin Meyer
    • Emmanuelle Lacene
    • Maud Beuvin
    • Evangelista Teresinha
    • Jocelyn Laporte
    • Anne Jeannin-Girardon
    • Pierre Collet
    • Olivier Poch
    • Norma B. Romero
    • Kirsley Chennen
    • Bruno Cadot

    Neuromuscular Disorders ; Volume: 32 ; Page: S55

    HAL DOI

  • Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice

    • Roberto Silva-Rojas
    • Laura Pérez-Guàrdia
    • Emma Lafabrie
    • David Moulaert
    • Jocelyn Laporte
    • Johann Böhm

    International Journal of Molecular Sciences ; Volume: 23 ; Page: 6968

    HAL DOI

• 2021

  • Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances

    • Raquel Gómez-Oca
    • Belinda Cowling
    • Jocelyn Laporte

    International Journal of Molecular Sciences ; Volume: 22 ; Page: 11377

    HAL DOI

  • Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes

    • Roberto Silva-Rojas
    • Vasugi Nattarayan
    • Francisco Jaque-Fernandez
    • Raquel Gomez-Oca
    • Alexia Menuet
    • David Reiss
    • Marie Goret
    • Nadia Messaddeq
    • Valentina M Lionello
    • Christine Kretz
    • Belinda S Cowling
    • Vincent Jacquemond
    • Jocelyn Laporte

    Molecular Therapy

    HAL DOI