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- W2108486519 abstract "Autophagy is a vesicular trafficking pathway that regulates the degradation of aggregated proteins and damaged organelles. Initiation of autophagy requires several multiprotein signaling complexes, such as the ULK1 kinase complex and the Vps34 lipid kinase complex, which generates phosphatidylinositol 3-phosphate [PtdIns(3)P] on the forming autophagosomal membrane. Alterations in autophagy have been reported for various diseases, including myopathies. Here we show that skeletal muscle autophagy is compromised in mice deficient in the X-linked myotubular myopathy (XLMTM)-associated PtdIns(3)P phosphatase myotubularin (MTM1). Mtm1-deficient muscle displays several cellular abnormalities, including a profound increase in ubiquitin aggregates and abnormal mitochondria. Further, we show that Mtm1 deficiency is accompanied by activation of mTORC1 signaling, which persists even following starvation. In vivo pharmacological inhibition of mTOR is sufficient to normalize aberrant autophagy and improve muscle phenotypes in Mtm1 null mice. These results suggest that aberrant mTORC1 signaling and impaired autophagy are consequences of the loss of Mtm1 and may play a primary role in disease pathogenesis." @default.
- W2108486519 created "2016-06-24" @default.
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- W2108486519 date "2013-01-01" @default.
- W2108486519 modified "2023-10-15" @default.
- W2108486519 title "Defective Autophagy and mTORC1 Signaling in Myotubularin Null Mice" @default.
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- W2108486519 doi "https://doi.org/10.1128/mcb.01075-12" @default.
- W2108486519 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3536306" @default.
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