Journal article
Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1
- Abstract:
-
Objective
Defective mitochondrial function due to OPA1 mutations causes primarily optic atrophy and less commonly neurodegenerative syndromes. The pathomechanism by which OPA1 mutations trigger diffuse loss of neurons in some but not all patients is unknown. Here we used a tractable iPSC-based model to capture the biology of OPA1 haploinsufficiency in cases presenting with classic eye disease versus syndromic parkinsonism.
Methods
iPSC were generated from two pati...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
Actions
Authors
Funding
National Institute for Health Research
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Oxford Biomedical Research Centre
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Oxford Martin School
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Bibliographic Details
- Publisher:
- Wiley Publisher's website
- Journal:
- Annals of Neurology Journal website
- Publication date:
- 2018-03-31
- Acceptance date:
- 2018-03-23
- DOI:
- EISSN:
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1531-8249
- ISSN:
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0364-5134
- Pmid:
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29604226
- Source identifiers:
-
833983
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:833983
- UUID:
-
uuid:784a9394-0eeb-4e59-bd56-8c307d8f5182
- Local pid:
- pubs:833983
- Deposit date:
- 2018-04-09
Terms of use
- Copyright date:
- 2018
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