Measurement of GCase Activity in Cultured Cells
| Autor: | Yuzuru Imai, Taiji Tsunemi, Yuri Shojima, Nobutaka Hattori, Jun Ogata |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Synucleinopathies Dementia with Lewy bodies Chemistry medicine.disease Cell biology 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine.anatomical_structure Gaucher's disease Lysosome medicine Lysosomal storage disease Glycoside hydrolase Glucocerebrosidase Gene 030217 neurology & neurosurgery |
| Zdroj: | Methods in Molecular Biology ISBN: 9781071614945 |
| DOI: | 10.1007/978-1-0716-1495-2_5 |
| Popis: | 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 Parkinson's disease and dementia with Lewy bodies. Recent studies on PD genes associated with lysosomal function suggest that GCase activity is decreased in cell models of PD and in neurons derived from PD patients. In this chapter, we describe a protocol to measure GCase activity in cultured cells. |
| Databáze: | OpenAIRE |
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