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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

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Publisher copy:
10.1002/ana.25221

Authors


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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Physiology Anatomy and Genetics
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM; Weatherall Insti. of Molecular Medicine
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Oxford Biomedical Research Centre More from this funder
Oxford Martin School More from this funder
National Institute for Health Research More from this funder
Publisher:
Wiley Publisher's website
Journal:
Annals of Neurology Journal website
Publication date:
2018-03-31
Acceptance date:
2018-03-23
DOI:
EISSN:
1531-8249
ISSN:
0364-5134
Pubs id:
pubs:833983
URN:
uri:784a9394-0eeb-4e59-bd56-8c307d8f5182
UUID:
uuid:784a9394-0eeb-4e59-bd56-8c307d8f5182
Local pid:
pubs:833983
Language:
English
Keywords:

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