Article

Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease

2021-02-04

Abstract excerpt

Gaucher disease (GD) is caused by the deficiency of the lysosomal membrane enzyme glucocerebrosidase (GCase), and the subsequent accumulation of its substrate, glucosylceramide substrate (GC). Mostly missense mutations of the glucocerebrosidase gene ( GBA ) lead to GCase misfolding and inhibiting the lysosome’s proper trafficking. The accumulated GC leads to lysosomal dysfunction and impairs the autophagy pathway...

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Literature Corpus work: 41f0d799-fb07-511f-8fec-0bff851952fb
DOI: 10.1101/2021.02.04.429713

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