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Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease

Abstract:

Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. We examined whether a genetic burden of variants in other lysosomal storage disorder genes is more broadly associated with Parkinson's disease susceptibility. The sequence kernel association test was used to interrogate variant burden among 54 lysosomal storage disorder genes, leveraging whole exome sequencing data from 1156 Parkinson's disease cases and 1679 cont...

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Publication status:
Published
Peer review status:
Peer reviewed

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Files:
Publisher copy:
10.1093/brain/awx285

Authors


More from this funder
Name:
Parkinson's UK
Grant:
J-1403
More from this funder
Name:
Medical Research Council
Grant:
G0700943
More from this funder
Name:
Wellcome Trust
Grant:
WT089698/Z/09/Z
Publisher:
Oxford University Press
Journal:
Brain More from this journal
Volume:
140
Issue:
12
Pages:
3191–3203
Publication date:
2017-11-13
Acceptance date:
2017-09-10
DOI:
EISSN:
1460-2156
ISSN:
0006-8950
Pmid:
29140481
Language:
English
Keywords:
Pubs id:
pubs:971290
UUID:
uuid:63f1d6bb-1308-48ba-a2d2-c5a950731b8d
Local pid:
pubs:971290
Source identifiers:
971290
Deposit date:
2019-07-31

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