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Article

Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients

1 Sept 2012

Abstract excerpt

The autophagy-lysosome system is essential for muscle cell homeostasis and its dysfunction has been linked to muscle disorders that are typically distinguished by massive autophagic buildup. Among them, glycogen storage disease type II (GSDII) is characterized by the presence of large glycogen-filled lysosomes in the skeletal muscle, due to a defect in the lysosomal enzyme acid α-glucosidase (GAA). The...

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Share to Autophagy in Disease and Therapy
Share to Glycogen Storage Diseases and Myoclonus
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PMID: 22940840
DOI: 10.4161/auto.21691

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