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laporte jocelyn
laporte jocelyn
IGBMC (Inserm, Cnrs, Strasbourg University)
Verified email at igbmc.fr - Homepage
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Cited by
Cited by
Year
Guidelines for the use and interpretation of assays for monitoring autophagy
Autophagy 12 (1), 1-222, 2016
13280*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
7021996
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
4852005
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
4132007
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
3472011
Centronuclear (myotubular) myopathy
H Jungbluth, C Wallgren-Pettersson, J Laporte
Orphanet journal of rare diseases 3, 1-13, 2008
3372008
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
3222003
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
3102009
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
2812000
MTM1 mutations in X‐linked myotubular myopathy
J Laporte, V Biancalana, SM Tanner, W Kress, V Schneider, ...
Human mutation 15 (5), 393-409, 2000
2392000
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
2382002
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
2142013
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
2052009
T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases
L Al-Qusairi, J Laporte
Skeletal muscle 1, 1-11, 2011
2002011
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
2002003
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
1981996
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy
J Böhm, F Chevessier, AM De Paula, C Koch, S Attarian, C Feger, ...
The American Journal of Human Genetics 92 (2), 271-278, 2013
1972013
A phosphoinositide conversion mechanism for exit from endosomes
K Ketel, M Krauss, AS Nicot, D Puchkov, M Wieffer, R Müller, ...
Nature 529 (7586), 408-412, 2016
1832016
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
1702004
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology
K Hnia, I Vaccari, A Bolino, J Laporte
Trends in Molecular Medicine, 2012
1662012
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