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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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3688503/
https://www.ncbi.nlm.nih.gov/pubmed/23818870
http://dx.doi.org/10.1371/journal.pgen.1003583