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Three-dimensional analysis of mitochondrial crista ultrastructure in a patient with Leigh syndrome by in situ cryoelectron tomography

Abstract:

Mitochondrial diseases produce profound neurological dysfunction via mutations affecting mitochondrial energy production, including the relatively common Leigh syndrome (LS). We recently described an LS case caused by a pathogenic mutation in USMG5, encoding a small supernumerary subunit of mitochondrial ATP synthase. This protein is integral for ATP synthase dimerization, and patient fibroblasts revealed an almost total loss of ATP synthase dimers. Here, we utilize in situ cryoelectron tomog...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.isci.2018.07.014

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Publisher:
Cell Press Publisher's website
Journal:
iScience Journal website
Volume:
6
Pages:
83-91
Publication date:
2018-07-20
Acceptance date:
2018-07-16
DOI:
ISSN:
2589-0042
Source identifiers:
959114
Language:
English
Pubs id:
pubs:959114
UUID:
uuid:61b58358-bb2e-4d3c-8b37-d00ef5d86797
Local pid:
pubs:959114
Deposit date:
2019-01-11

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