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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. (författare)
- University of Cambridge
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- Drouin-Ouellet, Janelle (författare)
- 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 (författare)
- University of Cambridge
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- Cox, Timothy (författare)
- University of Cambridge
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- Barker, Roger A. (författare)
- University of Cambridge
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(creator_code:org_t)
- 2018-02-09
- 2018
- Engelska.
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Ingår i: F1000Research. - : F1000 Research Ltd. - 2046-1402. ; 6
- Relaterad länk:
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http://dx.doi.org/10... (free)
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https://f1000researc...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- 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)
Nyckelord
- Autophagy
- Fibroblasts
- Gaucher disease
- GBA mutations
- Lysosome
- Parkinson's disease
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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