Jocelyn LAPORTE

Publications

• 2009

  • Dementia in a child with myotubular myopathy.

    • Heather J. Mccrea
    • Christine Kretz
    • Jocelyn Laporte
    • Laura R. Ment

    Pediatric Neurology ; Volume: 40 ; Page: 483-5

    HAL DOI

  • MAMLD1 (CXorf6): A New Gene Involved in Hypospadias.

    • Tsutomu Ogata
    • Jocelyn Laporte
    • Maki Fukami

    Hormone Research in Paediatrics ; Volume: 71 ; Page: 245-252

    HAL DOI

• 2008

  • PtdIns5P regulation through evolution: roles in membrane trafficking?

    • Odile Lecompte
    • Olivier Poch
    • Jocelyn Laporte

    Trends in Biochemical Sciences ; Volume: 33 ; Page: 453-60

    HAL DOI

  • Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking.

    • Canhong Cao
    • Jonathan M. Backer
    • Jocelyn Laporte
    • Edward J. Bedrick
    • Angela Wandinger-Ness

    Molecular Biology of the Cell ; Volume: 19 ; Page: 3334-46

    HAL DOI

  • Endosomal phosphoinositides and human diseases.

    • Anne-Sophie Nicot
    • Jocelyn Laporte

    Traffic ; Volume: 9 ; Page: 1240-9

    HAL DOI

  • Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence.

    • Maki Fukami
    • Yuka Wada
    • Michiyo Okada
    • Fumiko Kato
    • Noriyuki Katsumata
    • Takashi Baba
    • Ken-Ichirou Morohashi
    • Jocelyn Laporte
    • Motoo Kitagawa
    • Tsutomu Ogata

    Journal of Biological Chemistry ; Volume: 283 ; Page: 5525-32

    HAL DOI

  • Detection of myotubularin phosphatases activity on phosphoinositides in vitro and ex vivo

    • Holger Maria Rohde
    • Hélène Tronchère
    • Bernard Payrastre
    • Jocelyn Laporte

    Lipid Signaling Protocols ; Volume: 462 ; Page: 1-14

    HAL DOI

  • Centronuclear (myotubular) myopathy.

    • Heinz Jungbluth
    • Carina Wallgren-Pettersson
    • Jocelyn Laporte

    Orphanet Journal of Rare Diseases ; Volume: 3 ; Page: 26

    HAL DOI

• 2007

  • [Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy.]

    • Anne Toussaint
    • Anne-Sophie Nicot
    • Jean-Louis Mandel
    • Jocelyn Laporte

    Médecine/Sciences ; Volume: 23 ; Page: 1080-1082

    HAL

  • Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

    • Andoni Echaniz-Laguna
    • Anne-Sophie Nicot
    • Sophie Carré
    • Jérôme Franques
    • Christine Tranchant
    • Nicolas Dondaine
    • Valérie Biancalana
    • Jean-Louis Mandel
    • Jocelyn Laporte

    Neuromuscular Disorders ; Volume: 17 ; Page: 955-959

    HAL DOI