Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.

X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by mutations of the myotubularin gene, MTM1. Myotubularin belongs to a large family of conserved lipid phosphatases that include both catalytically active and inactive myotubularin-related proteins (i.e., "MTMRs"). Biochemically, c...

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Autors principals:	Vandana A Gupta, Karim Hnia, Laura L Smith, Stacey R Gundry, Jessica E McIntire, Junko Shimazu, Jessica R Bass, Ethan A Talbot, Leonela Amoasii, Nathaniel E Goldman, Jocelyn Laporte, Alan H Beggs
Format:	Artigo
Idioma:	Inglês
Publicat:	Public Library of Science (PLoS) 2013-06-01
Col·lecció:	PLoS Genetics
Accés en línia:	http://europepmc.org/articles/PMC3688503?pdf=render
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