Article

Structural rationale to understand the effect of disease-associated mutations on Myotubularin

2022-07-29

Abstract excerpt

Myotubularin or MTM1 is a lipid phosphatase that regulates vesicular trafficking in the cell. The MTM1 gene is mutated in a severe form of muscular disease, X-linked myotubular myopathy or XLMTM, affecting 1 in 50,000 newborn males worldwide. There have been several studies on the disease pathology of XLMTM, but the structural effects of missense mutations of MTM1 are underexplored due to the unavailability of a...

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Literature Corpus work: 1d9f9539-98bb-51dd-92df-61cb6ce94a66
DOI: 10.1101/2022.07.27.501705

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