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"). Bioche...
Main Authors: | 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 |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2013-06-01
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Series: | PLoS Genetics |
Online Access: | http://europepmc.org/articles/PMC3688503?pdf=render |
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