Dermal fibroblasts from patients with Parkinson's disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations.
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ABSTRACT:
SUBMITTER: Collins LM
PROVIDER: S-EPMC5820594 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Publications
Dermal fibroblasts from patients with Parkinson's disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations.
Collins Lucy M LM Drouin-Ouellet Janelle J Kuan Wei-Li WL Cox Timothy T Barker Roger A RA
F1000Research 20170926
<b>Background:</b> 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. <b>Methods:</b> We investigated PD and Gaucher Disease (GD) patient derived skin fibroblasts using biochemistry assays. <b>Results:</b> PD patient derived skin fibroblasts have normal glucocerebrosidase (GCase) activity, whilst patients with PD and GBA mutations have a selective deficit in GCase enzyme activi ...[more]
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