Jocelyn LAPORTE

Publications

• 2025

  • BIN1 reduction ameliorates DNM2 -related Charcot–Marie–Tooth neuropathy

    • Marie Goret
    • Morgane Thomas
    • Evelina Edelweiss
    • Nadia Messaddeq
    • Jocelyn Laporte

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 122

    HAL DOI

  • Transcriptomic characterization of postnatal muscle maturation in mice, with a focus on myopathy-associated genes

    • Alix Simon
    • Sarah Djeddi
    • Pauline Bournon
    • David Reiss
    • Julie Thompson
    • Jocelyn Laporte

    Disease Models & Mechanisms ; Volume: 18 ; Page: DMM052098

    HAL DOI

• 2024

  • Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era

    • Mai Thao Bui
    • Gorka Fernández-Eulate
    • Teresinha Evangelista
    • Emmanuelle Lacène
    • Guy Brochier
    • Clémence Labasse
    • Angéline Madelaine
    • Anaïs Chanut
    • Maud Beuvin
    • Favienne Borsato-Levy
    • Valerie Biancalana
    • Giulia Barcia
    • Pascale de Lonlay
    • Jocelyn Laporte
    • Johann Böhm
    • Norma Beatriz Romero

    Acta Neuropathologica Communications ; Volume: 12 ; Page: 191

    HAL DOI

  • Potential compensatory mechanisms preserving cardiac function in myotubular myopathy

    • Alix Simon
    • Nadege Diedhiou
    • David Reiss
    • Marie Goret
    • Erwan Grandgirard
    • Jocelyn Laporte

    Cellular and Molecular Life Sciences ; Volume: 81 ; Page: 476

    HAL DOI

  • Le tamoxifène, une molécule à fort potentiel thérapeutique pour toutes les myopathies centronucléaires, Tamoxifen, a high-potential molecule to treat all centronuclear myopathies

    • Charlotte Gineste
    • Jocelyn Laporte

    Médecine/Sciences ; Volume: 40 ; Page: 34-39

    HAL DOI

  • A Gain-of-Function Mutation in the Ca2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice

    • Laura Pérez-Guàrdia
    • Emma Lafabrie
    • Nadège Diedhiou
    • Coralie Spiegelhalter
    • Jocelyn Laporte
    • Johann Böhm

    Cells ; Volume: 13 ; Page: 1829

    HAL DOI

  • Dietary pro-oxidant therapy by a vitamin K precursor targets PI 3-kinase VPS34 function

    • Manojit Swamynathan
    • Shan Kuang
    • Kaitlin Watrud
    • Mary Doherty
    • Charlotte Gineste
    • Grinu Mathew
    • Grace Gong
    • Hilary Cox
    • Eileen Cheng
    • David Reiss
    • Jude Kendall
    • Diya Ghosh
    • Colleen Reczek
    • Xiang Zhao
    • Tali Herzka
    • Saulė Špokaitė
    • Antoine Dessus
    • Seung Tea Kim
    • Olaf Klingbeil
    • Juan Liu
    • ...

    Science ; Volume: 386

    HAL DOI

  • Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy

    • Boglarka Zambo
    • Evelina Edelweiss
    • Bastien Morlet
    • Luc Negroni
    • Matyas Pajkos
    • Zsuzsanna Dosztányi
    • Søren Østergaard
    • Gilles Travé
    • Jocelyn Laporte
    • Gergő Gógl

    eLife ; Volume: 13 ; Page: RP95397

    HAL DOI

  • Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

    • Yvan de Feraudy
    • Marie Vandroux
    • Norma Beatriz Romero
    • Raphaël Schneider
    • Safaa Saker
    • Anne Boland
    • Jean-François Deleuze
    • Valérie Biancalana
    • Johann Böhm
    • Jocelyn Laporte

    Genome Medicine ; Volume: 16 ; Page: 87

    HAL DOI

  • Amphiphysin-2 (BIN1) functions and defects in cardiac and skeletal muscle

    • Quentin Giraud
    • Jocelyn Laporte

    Trends in Molecular Medicine ; Volume: 30 ; Page: 579-591

    HAL DOI