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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Abstract:

To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a novel screening strategy, gene burden analyses trained with established ALS genes revealed a significant association between loss of function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping of an isolated community in the Netherlands revealed an NEK1:p.R261H variant as a candidate risk factor...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/ng.3626

Authors


More from this funder
Name:
European Union
Grant:
259867
More from this funder
Name:
National Institutes of Health/National Institute of Neurological Disorders and Stroke
Grant:
R01NS073873
More from this funder
Name:
National Institute for Health Research
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Name:
Bundesministerium für Bildung und Forschung, Germany
More from this funder
Name:
Ministero dell'Istruzione, dell'Università e della Ricerca, Italy
Publisher:
Nature Publishing Group
Journal:
Nature Genetics More from this journal
Volume:
48
Pages:
1037–1042
Publication date:
2016-07-01
Acceptance date:
2016-05-29
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Pubs id:
pubs:624857
UUID:
uuid:a0c6ed33-97bf-484e-b7d0-419c37a9996d
Local pid:
pubs:624857
Source identifiers:
624857
Deposit date:
2016-05-30

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