laporte jocelyn
laporte jocelyn
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Guidelines for the use and interpretation of assays for monitoring autophagy
Autophagy 12 (1), 1-222, 2016
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
J Laporte, LJ Hu, C Kretz, JL Mandel, P Kioschis, JF Coy, SM Klauck, ...
Nature genetics 13 (2), 175-182, 1996
Mutations in dynamin 2 cause dominant centronuclear myopathy
M Bitoun, S Maugenre, PY Jeannet, E Lacene, X Ferrer, P Laforêt, ...
Nature genetics 37 (11), 1207-1209, 2005
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
AS Nicot, A Toussaint, V Tosch, C Kretz, C Wallgren-Pettersson, ...
Nature genetics 39 (9), 1134-1139, 2007
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 …
H Azzedine, A Bolino, T Taieb, N Birouk, M Di Duca, A Bouhouche, ...
The American Journal of Human Genetics 72 (5), 1141-1153, 2003
Control of autophagy initiation by phosphoinositide 3‐phosphatase Jumpy
I Vergne, E Roberts, RA Elmaoued, V Tosch, MA Delgado, ...
The EMBO journal 28 (15), 2244-2258, 2009
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy
C Fugier, AF Klein, C Hammer, S Vassilopoulos, Y Ivarsson, A Toussaint, ...
Nature medicine 17 (6), 720-725, 2011
Centronuclear (myotubular) myopathy
H Jungbluth, C Wallgren-Pettersson, J Laporte
Orphanet journal of rare diseases 3 (1), 1-13, 2008
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway
F Blondeau, J Laporte, S Bodin, G Superti-Furga, B Payrastre, JL Mandel
Human Molecular Genetics 9 (15), 2223-2229, 2000
MTM1 mutations in X‐linked myotubular myopathy
J Laporte, V Biancalana, SM Tanner, W Kress, V Schneider, ...
Human mutation 15 (5), 393-409, 2000
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice
A Buj-Bello, V Laugel, N Messaddeq, H Zahreddine, J Laporte, ...
Proceedings of the National Academy of Sciences 99 (23), 15060-15065, 2002
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases
J Laporte, F Bedez, A Bolino, JL Mandel
Human molecular genetics 12 (suppl_2), R285-R292, 2003
Identification of a Hot Spot for Microdeletions in Patients with X-linked Deafness Type 3 (DFN3) 900 kb Proximal to the DFN3 gene POU3F4
YJM de Kok, ER Vossenaar, CWRJ Cremers, N Dahl, J Laporte, L Jia Hu, ...
Human molecular genetics 5 (9), 1229-1235, 1996
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
L Al-Qusairi, N Weiss, A Toussaint, C Berbey, N Messaddeq, C Kretz, ...
Proceedings of the National Academy of Sciences 106 (44), 18763-18768, 2009
Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3, 5-bisphosphate interaction
K Tsujita, T Itoh, T Ijuin, A Yamamoto, A Shisheva, J Laporte, T Takenawa
Journal of Biological Chemistry 279 (14), 13817-13824, 2004
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
O Ceyhan-Birsoy, PB Agrawal, C Hidalgo, K Schmitz-Abe, ET DeChene, ...
Neurology 81 (14), 1205-1214, 2013
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells
A Buj-Bello, D Furling, H Tronchère, J Laporte, T Lerouge, ...
Human molecular genetics 11 (19), 2297-2307, 2002
Endosomal phosphoinositides and human diseases
AS Nicot, J Laporte
Traffic 9 (8), 1240-1249, 2008
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells
H Tronchère, J Laporte, C Pendaries, C Chaussade, L Liaubet, L Pirola, ...
Journal of Biological Chemistry 279 (8), 7304-7312, 2004
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy
V Tosch, HM Rohde, H Tronchere, E Zanoteli, N Monroy, C Kretz, ...
Human molecular genetics 15 (21), 3098-3106, 2006
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