Article
Measurement of GCase Activity in Cultured Cells.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2021
Shojima Yuri, Ogata Jun, Tsunemi Taiji, Imai Yuzuru, Hattori Nobutaka
Abstract excerpt
Glucocerebrosidase (GCase), which is encoded by the GBA1 gene, has lysosomal glycoside hydrolase activity that hydrolyzes glucosylceramide. Defects in GCase lead to the accumulation of glucosylceramide, which causes the development of the lysosomal storage disease known as Gaucher's disease. Loss-of-function mutations in the GBA1 gene are the most important genetic risk factor for synucleinopathies, such as...
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