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C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia

Abstract:

A non-coding hexanucleotide repeat expansion in intron 1 of the C9orf72 gene is the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), however, the precise molecular mechanism by which the C9orf72 hexanucleotide repeat expansion directs C9ALS/FTD pathogenesis remains unclear. Here, we report a novel disease mechanism arising due to the interaction of C9ORF72 with the RAB7L1 GTPase to regulate vesicle trafficking. Endogenous interaction between C9ORF72 ...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted manuscript

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Publisher copy:
10.1093/brain/awx024

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Department:
Oxford, MSD, Physiology Anatomy and Genetics
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Department:
Oxford, MSD, Physiology Anatomy and Genetics
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Department:
Oxford, MSD, Physiology Anatomy and Genetics
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Department:
Oxford, MSD, Clinical Neurosciences
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Department:
Oxford, MSD, Physiology Anatomy and Genetics
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Funding agency for:
Aoki, Y
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Publisher:
Oxford University Press Publisher's website
Journal:
Brain Journal website
Volume:
140
Issue:
4
Pages:
887-897
Publication date:
2017-02-23
Acceptance date:
2016-12-28
DOI:
EISSN:
1460-2156
ISSN:
0006-8950
Pubs id:
pubs:687073
URN:
uri:0829c7fb-25c8-4470-8f99-487083317881
UUID:
uuid:0829c7fb-25c8-4470-8f99-487083317881
Local pid:
pubs:687073

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