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Journal article

Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations.

Abstract:

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the loss of motor neuron-like cells. Mutations in the RNA- and DNA-binding proteins, fused in sarcoma (FUS) and transactive response DNA-binding protein 43 kDa (TDP-43), are responsible for 5-10% of familial and 1% of sporadic ALS cases. Importantly, aggregation of misfolded FUS or TDP-43 is also characteristic of several neurodegenerative disorders in addition to ALS, including frontotemporal lobar degenerati...

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

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Publisher copy:
10.1093/hmg/ddv104

Authors


More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Physiology Anatomy and Genetics
Role:
Author
ORCID:
0000-0002-0152-3642
More by this author
Role:
Author
ORCID:
0000-0003-2071-5137
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Physiology Anatomy and Genetics
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Physiology Anatomy and Genetics
Oxford college:
Hertford College
Role:
Author
Publisher:
Oxford University Press Publisher's website
Journal:
Human Molecular Genetics Journal website
Volume:
24
Issue:
12
Pages:
3529-3544
Publication date:
2015-03-19
Acceptance date:
2015-03-16
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Pubs id:
pubs:514830
URN:
uri:bc6fa2bd-a326-420b-aa43-7a9f4a54ee6d
UUID:
uuid:bc6fa2bd-a326-420b-aa43-7a9f4a54ee6d
Local pid:
pubs:514830

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