- Abstract:
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Spinocerebellar ataxia type 14 (SCA14) is a subtype of the autosomal dominant cerebellar ataxias that is characterized by slowly progressive cerebellar dysfunction and neurodegeneration. SCA14 is caused by mutations in the PRKCG gene, encoding protein kinase C gamma (PKCγ). Despite the identification of 40 distinct disease-causing mutations in PRKCG, the pathological mechanisms underlying SCA14 remain poorly understood. Here we report the molecular neuropathology of SCA14 in post-mortem cereb...
Expand abstract - Publication status:
- Published
- Peer review status:
- Peer reviewed
- Version:
- Publisher's Version
- Files:
-
-
(pdf, 7.7MB)
-
- Publisher copy:
- 10.1186/s40478-018-0600-7
-
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- Publisher:
- BMC Publisher's website
- Journal:
- Acta Neuropathologica Communications Journal website
- Volume:
- 99
- Issue:
- 6
- Publication date:
- 2018-09-24
- Acceptance date:
- 2018-09-14
- DOI:
- EISSN:
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2051-5960
- Pubs id:
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pubs:919577
- URN:
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uri:ac086ebc-b9e9-47b2-9ec2-6832b147c726
- UUID:
-
uuid:ac086ebc-b9e9-47b2-9ec2-6832b147c726
- Local pid:
- pubs:919577
- Copyright holder:
- Wong et al.
- Copyright date:
- 2018
- Notes:
-
© The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and
reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to
the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver
(http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated
Journal article
Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation
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