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Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Abstract:

Objective: To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a protein that is essential for mitochondrial fusion), compared with healthy controls.

Methods: Patients with severe DOA (DOA plus) had peripheral neuropathy, cognitive regression, and epilepsy in addition to loss of vision. We quantified mitophagy in dermal fibroblasts, using 2 high throughput imaging systems, by visualizing colocalization of mitocho...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1212/WNL.0000000000003491

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Institution:
University of Oxford
Division:
MSD
Department:
Women's and Reproductive Health
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Women's and Reproductive Health
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Women's and Reproductive Health
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Women's and Reproductive Health
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Role:
Author
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National Institute for Health Research More from this funder
Angus Memorial Mitochondrial Fund More from this funder
Publisher:
Wolters Kluwer Health Publisher's website
Journal:
Neurology Journal website
Volume:
88
Issue:
2
Pages:
131-142
Publication date:
2016-12-14
Acceptance date:
2016-10-04
DOI:
EISSN:
1526-632X
ISSN:
0028-3878
Language:
English
Keywords:
Pubs id:
pubs:666263
UUID:
uuid:1ad5968c-42f6-45d9-a0e0-56b183f4ca3c
Local pid:
pubs:666263
Deposit date:
2017-02-03

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