- Abstract:
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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...
Expand abstract - Publication status:
- Published
- Peer review status:
- Peer reviewed
- Files:
-
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(pdf, 1.2mb)
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- Publisher copy:
- 10.1002/ana.25221
-
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- 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
- Pubs id:
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pubs:833983
- URN:
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uri:784a9394-0eeb-4e59-bd56-8c307d8f5182
- UUID:
-
uuid:784a9394-0eeb-4e59-bd56-8c307d8f5182
- Local pid:
- pubs:833983
- Language:
- English
- Keywords:
- Copyright date:
- 2018
Journal article
Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1
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Oxford Biomedical Research Centre
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Oxford Martin School
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National Institute for Health Research
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