Article
Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease.
PloS one - 1 Jan 2021
Ivanova Margarita M, Dao Julia, Kasaci Neil, Adewale Benjamin, Nazari Shaista, Noll Lauren, Fikry Jacqueline, Sanati Armaghan Hafez, Goker-Alpan Ozlem
Abstract excerpt
Gaucher disease (GD) is caused by deficiency of the lysosomal membrane enzyme glucocerebrosidase (GCase) and the subsequent accumulation of its substrate, glucosylceramide (GC). Mostly missense mutations of the glucocerebrosidase gene (GBA) cause GCase misfolding and inhibition of proper lysosomal trafficking. The accumulated GC leads to lysosomal dysfunction and impairs the autophagy pathway. GD types 2 and 3...
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