Monday, April 8, 2019

Fly studies relevant to myopathies

Jean S, Cox S, Schmidt EJ, Robinson FL, Kiger A. Sbf/MTMR13 coordinates PI(3)P and Rab21 regulation in endocytic control of cellular remodeling. Mol Biol Cell. 2012 Jul;23(14):2723-40. doi: 10.1091/mbc.E12-05-0375. PubMed PMID: 22648168; PubMed Central PMCID: PMC3395661.

Updated in 2019 to include this 2011 study from the same group:

Ribeiro I, Yuan L, Tanentzapf G, Dowling JJ, Kiger A. Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance. PLoS Genet. 2011 Feb 10;7(2):e1001295. PMID: 21347281; PMCID: PMC3037412.

From the abstract: "Muscles must maintain cell compartmentalization when remodeled during development and use. How spatially restricted adhesions are regulated with muscle remodeling is largely unexplored. We show that the myotubularin (mtm) phosphoinositide phosphatase is required for integrin-mediated myofiber attachments in Drosophila melanogaster, and that mtm-depleted myofibers exhibit hallmarks of human XLMTM myopathy. ... Importantly, similar integrin localization defects found in human XLMTM myofibers signify conserved MTM1 function in muscle membrane trafficking. Our results indicate that regulation of distinct phosphoinositide pools plays a central role in maintaining cell compartmentalization and attachments during muscle remodeling, and they suggest involvement of Class II PI3-kinase in MTM-related disease.

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