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Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Abstract:

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. We screened 751 familial ALS patient whole-exome sequences and identified six mutations including p.D40G in the ANXA11 gene in 13 individuals. The p.D40G mutation was absent from 70,000 control whole-exome sequences. This mutation segregated with disease in two kindreds and was present in another two unrelated cases (P = 0.0102), and all mutation carriers shared a common founder haplotype. Annexin A11-positive protein ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1126/scitranslmed.aad9157

Authors


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Name:
Instituto de Salud Carlos III
Grant:
PI14/00088
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Name:
European Commission
Grant:
Health Seventh Framework Programme (FP7/2007–2013
grant agreement number 259867
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Name:
National Institutes of Health
Grant:
NINDS (R01NS073873 to J.E.L.
Publisher:
American Association for the Advancement of Science
Journal:
Science Translational Medicine More from this journal
Volume:
9
Issue:
388
Article number:
eaad9157
Publication date:
2017-05-03
Acceptance date:
2017-01-04
DOI:
EISSN:
1946-6242
ISSN:
1946-6234
Language:
English
Keywords:
Pubs id:
pubs:693961
UUID:
uuid:09b3522e-fa85-4747-9815-478ac8322a9d
Local pid:
pubs:693961
Source identifiers:
693961
Deposit date:
2017-06-28

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