Journal article
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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- Files:
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(Accepted manuscript, pdf, 6.0MB)
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- Publisher copy:
- 10.1126/scitranslmed.aad9157
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Authors
Funding
Middlemass family
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Heaton-Ellis Trust
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Motor Neurone Disease
Association
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Medical Research Council
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Psychiatry Research Trust of the Institute of
Psychiatry
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Bibliographic Details
- Publisher:
- American Association for the Advancement of Science Publisher's website
- Journal:
- Science Translational Medicine Journal website
- Volume:
- 9
- Issue:
- 388
- Article number:
- eaad9157
- Publication date:
- 2017-05-03
- Acceptance date:
- 2017-01-04
- DOI:
- EISSN:
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1946-6242
- ISSN:
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1946-6234
- Source identifiers:
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693961
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:693961
- UUID:
-
uuid:09b3522e-fa85-4747-9815-478ac8322a9d
- Local pid:
- pubs:693961
- Deposit date:
- 2017-06-28
Terms of use
- Copyright holder:
- Smith et al
- Copyright date:
- 2017
- Notes:
-
Copyright © 2017 The Authors,
some rights reserved;
exclusive licensee
American Association
for the Advancement
of Science. This is the accepted manuscript version of the article. The final version is available online from American Association
for the Advancement
of Science at: https://doi.org/10.1126/scitranslmed.aad9157
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