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Dermal fibroblasts ...
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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- Collins, Lucy M. (author)
- University of Cambridge
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- Drouin-Ouellet, Janelle (author)
- Lund University,Lunds universitet,Utvecklings- och regenerativ neurobiologi,Forskargrupper vid Lunds universitet,Developmental and Regenerative Neurobiology,Lund University Research Groups
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- Kuan, Wei Li (author)
- University of Cambridge
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- Cox, Timothy (author)
- University of Cambridge
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- Barker, Roger A. (author)
- University of Cambridge
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(creator_code:org_t)
- 2018-02-09
- 2018
- English.
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In: F1000Research. - : F1000 Research Ltd. - 2046-1402. ; 6
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Abstract
Subject headings
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- 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 patients with PD and GBA mutations have a selective deficit in GCase enzyme activity and impaired autophagic flux. Conclusions: 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- Autophagy
- Fibroblasts
- Gaucher disease
- GBA mutations
- Lysosome
- Parkinson's disease
Publication and Content Type
- art (subject category)
- ref (subject category)
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