Jocelyn LAPORTE

Publications

• 2003

  • Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

    • H. Azzedine
    • A. Bolino
    • T. Taïeb
    • N. Birouk
    • M. Di Duca
    • A. Bouhouche
    • S. Benamou
    • A. Mrabet
    • T. Hammadouche
    • T. Chkili
    • R. Gouider
    • R. Ravazzolo
    • A. Brice
    • Jocelyn Laporte
    • E. Leguern

    American Journal of Human Genetics ; Volume: 72 ; Page: 1141-1153

    HAL DOI

• 2002

  • The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

    • Anna Buj-Bello
    • Vincent Laugel
    • Nadia Messaddeq
    • Hala Zahreddine
    • Jocelyn Laporte
    • Jean-François Pellissier
    • Jean-Louis Mandel

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 99 ; Page: 15060-15065

    HAL DOI

  • Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells

    • Ana Buj-Bello
    • Furling D
    • Helene Tronchere
    • Jocelyn Laporte
    • Thierry Lerouge
    • Gillian S. Butler-Browne
    • Jean-Louis Mandel

    Human Molecular Genetics ; Volume: 11 ; Page: 2297-2307

    HAL DOI

  • The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles

    • Jocelyn Laporte
    • Francois Blondeau
    • Anne Gansmuller
    • Yves Lutz
    • Jean-Luc Vonesch
    • Jean-Louis Mandel

    Journal of Cell Science ; Volume: 115 ; Page: 3105-3117

    HAL DOI

  • Functional redundancy in the myotubularin family

    • Jocelyn Laporte
    • Laurence Liaubet
    • François Blondeau
    • Hélène Tronchère
    • Jean-Louis Mandel
    • Bernard Payrastre

    Biochemical and Biophysical Research Communications ; Volume: 291 ; Page: 305-312

    HAL DOI

• 2001

  • Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system

    • Olivier M Dorchies
    • Jocelyn Laporte
    • Stéphanie Wagner
    • Colette Hindelang
    • Jean-Marie Warter
    • Jean-Louis Mandel
    • Philippe Poindron

    Neuromuscular Disorders ; Volume: 11 ; Page: 736-746

    HAL DOI

  • Diagnosis of X-linked myotubular myopathy by detection of myotubularin

    • Jocelyn Laporte
    • Wolfram Kress
    • Jean-Louis Mandel

    Annals of Neurology ; Volume: 50 ; Page: 42-46

    HAL DOI

• 2000

  • Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

    • François Blondeau
    • Jocelyn Laporte
    • Stephane Bodin
    • Giulio Superti-Furga
    • Bernard Payrastre
    • Jean-Louis Mandel

    Human Molecular Genetics ; Volume: 9 ; Page: 2223-2229

    HAL DOI

  • MTM1 mutations in X-linked myotubular myopathy

    • Jocelyn Laporte
    • Stephan Tanner
    • Wolfram Kress
    • Vreni Schneider
    • Carina Wallgren-Pettersson
    • Franziska Herger
    • Anna Buj-Bello
    • Sabina Liechti-Gallati
    • Jean-Louis Mandel

    Human Mutation ; Volume: 15 ; Page: 393-409

    HAL DOI

  • MTM1 mutations in X-linked myotubular myopathy

    • Jocelyn Laporte
    • Valérie Biancalana
    • Stephan Tanner
    • Wolfram Kress
    • Vreni Schneider
    • Carina Wallgren-Pettersson
    • Franziska Herger
    • Anna Buj-Bello
    • François Blondeau
    • Sabina Liechti-Gallati
    • Jean-Louis Mandel

    Human Mutation ; Volume: 15 ; Page: 393-409

    HAL DOI