Dermal fibroblasts from patients with Parkinson’s disease have normal GCase activity and autophagy compared to patients with
نویسنده
چکیده
Recently, the development of Parkinson’s disease (PD) has Background: been linked to a number of genetic risk factors, of which the most common is glucocerebrosidase (GBA) mutations. We investigated PD and Gaucher Disease (GD) patient derived skin Methods: fibroblasts using biochemistry assays. PD patient derived skin fibroblasts have normal glucocerebrosidase Results: (GCase) activity, whilst patients with PD and GBA mutations have a selective deficit in GCase enzyme activity and impaired autophagic flux. This data suggests that only PD patients with a GBA mutation Conclusions: have altered GCase activity and autophagy, which may explain their more rapid clinical progression. 1,2 3 2 4
منابع مشابه
Dermal fibroblasts from patients with Parkinson’s disease have normal GCase activity and autophagy compared to patients with
Recently, the development of Parkinson’s disease (PD) has Background: been linked to a number of genetic risk factors, of which the most common is glucocerebrosidase (GBA) mutations. We investigated PD and Gaucher Disease (GD) patient derived skin Methods: fibroblasts using biochemistry assays. PD patient derived skin fibroblasts have normal glucocerebrosidase Results: (GCase) activity, whilst ...
متن کاملDermal fibroblasts from patients with Parkinson’s disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations
Background: 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. Methods: We investigated PD and Gaucher Disease (GD) patient derived skin fibroblasts using biochemistry assays. Results: PD patient derived skin fibroblasts have normal glucocerebrosidase (GCase) activity, whilst ...
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