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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Autori principali: Amoasii, Leonela, Bertazzi, Dimitri L., Tronchère, Hélène, Hnia, Karim, Chicanne, Gaëtan, Rinaldi, Bruno, Cowling, Belinda S., Ferry, Arnaud, Klaholz, Bruno, Payrastre, Bernard, Laporte, Jocelyn, Friant, Sylvie
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2012
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3469422/
https://ncbi.nlm.nih.gov/pubmed/23071445
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002965
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