- 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 ...
Expand abstract - Publication status:
- Published
- Peer review status:
- Peer reviewed
- Version:
- Accepted Manuscript
- Files:
-
-
(pdf, 6.0MB)
-
- Publisher copy:
- 10.1126/scitranslmed.aad9157
-
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- Publisher:
- American Association for the Advancement of Science Publisher's website
- Journal:
- Science Translational Medicine Journal website
- Volume:
- 9
- Issue:
- 388
- Pages:
- Article: eaad9157
- Publication date:
- 2017-05-03
- Acceptance date:
- 2017-01-04
- DOI:
- EISSN:
-
1946-6242
- ISSN:
-
1946-6234
- Pubs id:
-
pubs:693961
- URN:
-
uri:09b3522e-fa85-4747-9815-478ac8322a9d
- UUID:
-
uuid:09b3522e-fa85-4747-9815-478ac8322a9d
- Local pid:
- pubs:693961
- Paper number:
- 388
- Language:
- English
- Keywords:
- 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
Journal article
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis
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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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