Physiopathologie des maladies neuromusculaires
Chef d'équipe : Jocelyn LAPORTE
Département : Médecine translationnelle et neurogénétique
Jocelyn LAPORTE
Chercheur
Directeur de recherche Inserm
jocelyn@igbmc.fr
Équipe(s)
Sous-groupe(s)
Publications
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2007
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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
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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
- Anne-Sophie Nicot
- Anne Toussaint
- Valérie Tosch
- Christine Kretz
- Carina Wallgren-Pettersson
- Erik Iwarsson
- Helen Kingston
- Jean-Marie Garnier
- Valérie Biancalana
- Anders Oldfors
- Jean-Louis Mandel
- Jocelyn Laporte
Nature Genetics ; Volume: 39 ; Page: 1134-9
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Myotubularin lipid phosphatase binds the hVPS15/hVPS34 lipid kinase complex on endosomes.
- Canhong Cao
- Jocelyn Laporte
- Jonathan M Backer
- Angela Wandinger-Ness
- Mary-Pat Stein
Traffic ; Volume: 8 ; Page: 1052-67
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Mutations de l’amphiphysine 2 (BIN1) dans les myopathies centronucléaires récessives [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
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2006
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CXorf6 is a causative gene for hypospadias.
- Maki Fukami
- Yuka Wada
- Kanako Miyabayashi
- Ichizo Nishino
- Tomonobu Hasegawa
- Agneta Nordenskjöld
- Giovanna Camerino
- Christine Kretz
- Anna Buj-Bello
- Jocelyn Laporte
- Gen Yamada
- Ken-Ichirou Morohashi
- Tsutomu Ogata
Nature Genetics ; Volume: 38 ; Page: 1369-71
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CXorf6 is a causative gene for hypospadias
- Maki Fukami
- Yuka Wada
- Kanako Miyabayashi
- Ichizo Nishino
- Tomonobu Hasegawa
- Agneta Nordenskjöld
- Giovanna Camerino
- Christine Kretz
- Anna Buj-Bello
- Jocelyn Laporte
- Gen Yamada
- Ken-Ichirou Morohashi
- Tsutomu Ogata
Nature Genetics ; Volume: 38 ; Page: 1369-1371
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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
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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
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2005
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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
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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 Gabbai
- Anna Buj-Bello
American Journal of Medical Genetics Part A ; Volume: 134A ; Page: 338-340
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