Journal article
Three-dimensional analysis of mitochondrial crista ultrastructure in a patient with Leigh syndrome by in situ cryoelectron tomography
- Abstract:
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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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(Version of record, pdf, 8.7MB)
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- Publisher copy:
- 10.1016/j.isci.2018.07.014
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Authors
Bibliographic Details
- 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:
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2589-0042
- Source identifiers:
-
959114
Item Description
- Language:
- English
- Pubs id:
-
pubs:959114
- UUID:
-
uuid:61b58358-bb2e-4d3c-8b37-d00ef5d86797
- Local pid:
- pubs:959114
- Deposit date:
- 2019-01-11
Terms of use
- Copyright holder:
- Siegmund et al
- Copyright date:
- 2018
- Notes:
-
Copyright © 2018 The Authors.
This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
- Licence:
- CC Attribution (CC BY)
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