Article
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
PLoS genetics - 1 Jun 2013
Gupta Vandana A, Hnia Karim, Smith Laura L, Gundry Stacey R, McIntire Jessica E, Shimazu Junko, Bass Jessica R, Talbot Ethan A, Amoasii Leonela, Goldman Nathaniel E, Laporte Jocelyn, Beggs Alan H
Abstract excerpt
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, catalytically inactive MTMRs have been shown to form heteroligomers with active members within the myotubularin...
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