distal myopathy with abnormal GNE gene

点击翻译按钮获取中文摘要

In mutant GNE gene-transfected cells and GNE-knockdown cells, the excessive formation of rimmed vacuole and the morphological change of an autophagy-lysosome system structures were not observed, but the level of mTOR phosphorylation increased, suggesting that GNE play a certain role in regulation of an autophagy-lysosome system through mTOR. The VCP/p97-Nfd1-Npl4 complex is suspected to participate in the overdevelopment formation of rimmed vacuoles. IGF-1 or salubrinal treatment may suppress the overdevelopment of rimmed vacuoles due to activation (phosphorylation) of mTOR and/or elF2.