Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin‐proteasome pathways

Abstract excerpt

Mutations in the phosphoinositide phosphatase myotubularin (MTM1) results in X-linked myotubular/centronuclear myopathy (XLMTM), characterized by a severe decrease in muscle mass and strength in patients and murine models. However, the molecular mechanism involved in the muscle hypotrophy is unclear. Here we show that the IGF1R/Akt pathway is affected in Mtm1-deficient murine muscles, characterized by an increase...

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