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• W4236029372 abstract "<ns4:p><ns4:bold>Background: </ns4:bold>Recently, the development of Parkinson’s disease (PD) has been linked to a number of genetic risk factors, of which the most common is glucocerebrosidase (GBA) mutations.</ns4:p><ns4:p> <ns4:bold>Methods:</ns4:bold> We investigated PD and Gaucher Disease (GD) patient derived skin fibroblasts using biochemistry assays.</ns4:p><ns4:p> <ns4:bold>Results:</ns4:bold> PD patient derived skin fibroblasts have normal glucocerebrosidase (GCase) activity, whilst patients with PD and GBA mutations have a selective deficit in GCase enzyme activity and impaired autophagic flux.</ns4:p><ns4:p> <ns4:bold>Conclusions:</ns4:bold> This data suggests that only PD patients with a GBA mutation have altered GCase activity and autophagy, which may explain their more rapid clinical progression.</ns4:p>" @default.
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• W4236029372 date "2017-09-26" @default.
• W4236029372 modified "2023-10-16" @default.
• W4236029372 title "Dermal fibroblasts from patients with Parkinson’s disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations" @default.
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• W4236029372 doi "https://doi.org/10.12688/f1000research.12090.1" @default.
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