- 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...
Expand abstract - Publication status:
- Published
- Peer review status:
- Peer reviewed
- Version:
- Publisher's Version
- Files:
-
-
(pdf, 1.2MB)
-
- Publisher copy:
- 10.1093/hmg/ddv104
-
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- 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
- Language:
- English
- Keywords:
- Copyright holder:
- Finelli et al.
- Copyright date:
- 2015
- Notes:
- © The Author 2015. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
Journal article
Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations.
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