Article
Autophagy dysregulation in Danon disease.
Cell death & disease - 19 Jan 2017
Nascimbeni Anna Chiara, Fanin Marina, Angelini Corrado, Sandri Marco
Abstract excerpt
The autophagy-lysosome system is critical for muscle homeostasis and defects in lysosomal function result in a number of inherited muscle diseases, generally referred to as autophagic vacuolar myopathies (AVMs). Among them, Danon Disease (DD) and glycogen storage disease type II (GSDII) are due to primary lysosomal protein defects. DD is characterized by mutations in the lysosome-associated membrane protein 2...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.