Dermal fibroblasts from patients with Parkinson's disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations
(2018) In F1000Research 6.- Abstract
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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/31b96cd3-8445-4d52-b6d0-17e815176595
- author
- Collins, Lucy M. ; Drouin-Ouellet, Janelle LU ; Kuan, Wei Li ; Cox, Timothy and Barker, Roger A. LU
- organization
- publishing date
- 2018
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Autophagy, Fibroblasts, Gaucher disease, GBA mutations, Lysosome, Parkinson's disease
- in
- F1000Research
- volume
- 6
- article number
- 1751
- publisher
- F1000 Research Ltd.
- external identifiers
-
- pmid:29527290
- scopus:85042530673
- ISSN
- 2046-1402
- DOI
- 10.12688/f1000research.12090.2
- language
- English
- LU publication?
- yes
- id
- 31b96cd3-8445-4d52-b6d0-17e815176595
- date added to LUP
- 2018-03-09 08:55:12
- date last changed
- 2024-09-02 17:05:50
@article{31b96cd3-8445-4d52-b6d0-17e815176595, abstract = {{<p>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.</p>}}, author = {{Collins, Lucy M. and Drouin-Ouellet, Janelle and Kuan, Wei Li and Cox, Timothy and Barker, Roger A.}}, issn = {{2046-1402}}, keywords = {{Autophagy; Fibroblasts; Gaucher disease; GBA mutations; Lysosome; Parkinson's disease}}, language = {{eng}}, publisher = {{F1000 Research Ltd.}}, series = {{F1000Research}}, title = {{Dermal fibroblasts from patients with Parkinson's disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations}}, url = {{http://dx.doi.org/10.12688/f1000research.12090.2}}, doi = {{10.12688/f1000research.12090.2}}, volume = {{6}}, year = {{2018}}, }