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ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

Abstract:

Mutations in TANK binding kinase 1 (TBK1) have been linked to amyotrophic lateral sclerosis. Some TBK1 variants are nonsense and are predicted to cause disease through haploinsufficiency; however, many other mutations are missense with unknown functional effects. We exome sequenced 699 familial amyotrophic lateral sclerosis patients and identified 16 TBK1 novel or extremely rare protein-changing variants. We characterized a subset of these: p.G217R, p.R357X, and p.C471Y. Here, we show that th...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Authors


De Majo, M More by this author
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ORCID:
0000-0002-5200-3284
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ORCID:
0000-0002-6980-2453
Nishimura, AL More by this author
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Heaton-Ellis Trust More from this funder
Motor Neurone Disease Association More from this funder
Medical Research Council More from this funder
Wellcome Trust More from this funder
Noreen Murray Foundation More from this funder
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Publisher:
Elsevier Publisher's website
Journal:
Neurobiology of Aging Journal website
Volume:
71
Pages:
266.e1-266.e10
Publication date:
2018-06-25
Acceptance date:
2018-06-12
DOI:
EISSN:
1558-1497
ISSN:
0197-4580
Pubs id:
pubs:891542
URN:
uri:92720325-6af9-487e-8982-00d0ddb09771
UUID:
uuid:92720325-6af9-487e-8982-00d0ddb09771
Local pid:
pubs:891542
Language:
English
Keywords:

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