Jocelyn LAPORTE

Publications

• 2006

  • Article in a journal

    A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

    • Valérie Tosch
    • Holger M Rohde
    • Hélène Tronchère
    • Edmar Zanoteli
    • Nancy Monroy
    • Christine Kretz
    • Nicolas Dondaine
    • Bernard Payrastre
    • Jean-Louis Mandel
    • Jocelyn Laporte

    Human Molecular Genetics ; Volume: 15 ; Page: 3098-106

    HAL DOI

  • Article in a journal

    The phosphoinositide kinase PIKfyve/Fab1p regulates terminal lysosome maturation in Caenorhabditis elegans.

    • Anne-Sophie Nicot
    • Hanna Fares
    • Bernard Payrastre
    • Andrew D Chisholm
    • Michel Labouesse
    • Jocelyn Laporte

    Molecular Biology of the Cell ; Volume: 17 ; Page: 3062-74

    HAL DOI

• 2005

  • Article in a journal

    Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.

    • Edmar Zanoteli
    • Jocelyn Laporte
    • José C C Rocha
    • Christine Kretz
    • Acary S B Oliveira
    • Jean-Louis Mandel
    • Ana B A Perez
    • Alberto A Gabbai
    • Anna Buj-Bello

    American Journal of Medical Genetics Part A ; Volume: 134 ; Page: 338-40

    HAL DOI

  • Article in a journal

    Mutations in dynamin 2 cause dominant Centronuclear Myopathy

    • Marc Bitoun
    • Svetlana Maugenre
    • Pierre-Yves Jeannet
    • Emmanuelle Lacène
    • Xavier Ferrer
    • Pascal Laforêt
    • Jean-Jacques Martin
    • Jocelyn Laporte
    • Hanns Lochmuller
    • Alan H. Beggs
    • Michel Fardeau
    • Bruno Eymard
    • Norma Beatriz Romero
    • Pascale Guicheney

    Nature Genetics ; Volume: 37 ; Page: 1207-1209

    HAL DOI

• 2004

  • Article in a journal

    Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction

    • Kazuya Tsujita
    • Toshiki Itoh
    • Takeshi Ijuin
    • Akitsugu Yamamoto
    • Assia Shisheva
    • Jocelyn Laporte
    • Tadaomi Takenawa

    Journal of Biological Chemistry ; Volume: 279 ; Page: 13817-13824

    HAL DOI

  • Article in a journal

    Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells

    • Hélène Tronchère
    • Jocelyn Laporte
    • Caroline Pendaries
    • Claire Chaussade
    • Laurence Liaubet
    • Luciano Pirola
    • Jean-Louis Mandel
    • Bernard Payrastre

    Journal of Biological Chemistry ; Volume: 279 ; Page: 7304-7312

    HAL DOI

  • Article in a journal

    118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)

    • E. Bertini
    • Valérie Biancalana
    • A. Bolino
    • A. Buj Bello
    • M. Clague
    • P. Guicheney
    • H. Jungbluth
    • W. Kress
    • A. Musaro
    • H. Nandurkar
    • L. Pirola
    • N. Romero
    • J. Senderek
    • U. Suter
    • C. Sewry
    • H. Tronchere
    • C. Wallgren-Pettersson
    • M.J. Wishart
    • Jocelyn Laporte

    Neuromuscular Disorders ; Volume: 14 ; Page: 387-396

    HAL DOI

• 2003

  • Article in a journal

    Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport

    • Claire Chaussade
    • Luciano Pirola
    • Stéphanie Bonnafous
    • François Blondeau
    • Stefano Brenz-Verca
    • Hélène Tronchère
    • Fiorella Portis
    • Sandro Rusconi
    • Bernard Payrastre
    • Jocelyn Laporte
    • E. van Obberghen

    Molecular Endocrinology -Baltimore- ; Volume: 17 ; Page: 2448-2460

    HAL DOI

  • Article in a journal

    Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

    • Jocelyn Laporte
    • Florence Bedez
    • Alessandra Bolino
    • Jean-Louis Mandel

    Human Molecular Genetics ; Volume: 12 ; Page: R285-R292

    HAL DOI

  • Article in a journal

    Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP

    • Harshal H. Nandurkar
    • Meredith Layton
    • Jocelyn Laporte
    • Carly Selan
    • Lisa Corcoran
    • Kevin K. Caldwell
    • Yasuhiro Mochizuki
    • Philip W. Majerus
    • Christina A. Mitchell

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 100 ; Page: 8660-8665

    HAL DOI