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Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.

Abstract:

Mitochondria play a key role in common neurodegenerative diseases and contain their own genome: mtDNA. Common inherited polymorphic variants of mtDNA have been associated with several neurodegenerative diseases, and somatic deletions of mtDNA have been found in affected brain regions. However, there are conflicting reports describing the role of rare inherited variants and somatic point mutations in neurodegenerative disorders, and recent evidence also implicates mtDNA levels. To address thes...

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

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Publisher copy:
10.1186/s40478-016-0404-6

Authors


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National Institute for Health Research More from this funder
University of Cambridge More from this funder
Publisher:
BioMed Central Publisher's website
Journal:
Acta Neuropathologica Communications Journal website
Volume:
5
Issue:
1
Pages:
13
Publication date:
2017-02-05
Acceptance date:
2016-12-13
DOI:
EISSN:
2051-5960
Pubs id:
pubs:679680
URN:
uri:1990cd99-fe58-40b4-a967-22645150e5de
UUID:
uuid:1990cd99-fe58-40b4-a967-22645150e5de
Local pid:
pubs:679680

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