Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.

Myotubularin MTM1 is a phosphoinositide (PPIn) 3-phosphatase mutated in X-linked centronuclear myopathy (XLCNM; myotubular myopathy). We investigated the involvement of MTM1 enzymatic activity on XLCNM phenotypes. Exogenous expression of human MTM1 in yeast resulted in vacuolar enlargement, as a con...

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Bibliographic Details
Main Authors: Leonela Amoasii, Dimitri L Bertazzi, Hélène Tronchère, Karim Hnia, Gaëtan Chicanne, Bruno Rinaldi, Belinda S Cowling, Arnaud Ferry, Bruno Klaholz, Bernard Payrastre, Jocelyn Laporte, Sylvie Friant
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3469422?pdf=render

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http://europepmc.org/articles/PMC3469422?pdf=render

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