James B Stewart
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Explore the profile of James B Stewart including associated specialties, affiliations and a list of published articles.
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43
Citations
2291
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Recent Articles
11.
Stewart J, Chinnery P
Nat Rev Genet
. 2020 Sep;
22(2):106-118.
PMID: 32989265
Contrary to the long-held view that most humans harbour only identical mitochondrial genomes, deep resequencing has uncovered unanticipated extreme genetic variation within mitochondrial DNA (mtDNA). Most, if not all, humans...
12.
Richter U, Ng K, Suomi F, Marttinen P, Turunen T, Jackson C, et al.
Life Sci Alliance
. 2019 Jan;
2(1).
PMID: 30683687
Mitochondria have a compartmentalized gene expression system dedicated to the synthesis of membrane proteins essential for oxidative phosphorylation. Responsive quality control mechanisms are needed to ensure that aberrant protein synthesis...
13.
Bacman S, Kauppila J, Pereira C, Nissanka N, Miranda M, Pinto M, et al.
Nat Med
. 2018 Oct;
24(12):1940.
PMID: 30291358
In the version of this article originally published, there was an error in Fig. 1a. The m.5024C>T mutation, shown as a green T, was displaced by one base. The error...
14.
Bacman S, Kauppila J, Pereira C, Nissanka N, Miranda M, Pinto M, et al.
Nat Med
. 2018 Sep;
24(11):1696-1700.
PMID: 30250143
Mutations in the mitochondrial DNA (mtDNA) are responsible for several metabolic disorders, commonly involving muscle and the central nervous system. Because of the critical role of mtDNA in oxidative phosphorylation,...
15.
Gammage P, Viscomi C, Simard M, Costa A, Gaude E, Powell C, et al.
Nat Med
. 2018 Sep;
24(11):1691-1695.
PMID: 30250142
Mutations of the mitochondrial genome (mtDNA) underlie a substantial portion of mitochondrial disease burden. These disorders are currently incurable and effectively untreatable, with heterogeneous penetrance, presentation and prognosis. To address...
16.
McCann B, Cox A, Gammage P, Stewart J, Zernicka-Goetz M, Minczuk M
Methods Mol Biol
. 2018 Aug;
1867():215-228.
PMID: 30155826
Mitochondrial diseases often result from mutations in the mitochondrial genome (mtDNA). In most cases, mutant mtDNA coexists with wild-type mtDNA, resulting in heteroplasmy. One potential future approach to treat heteroplasmic...
17.
Kauppila J, Bonekamp N, Mourier A, Isokallio M, Just A, Kauppila T, et al.
Nucleic Acids Res
. 2018 Jun;
46(13):6642-6669.
PMID: 29860357
Mitochondrial DNA (mtDNA) mutations become more prevalent with age and are postulated to contribute to the ageing process. Point mutations of mtDNA have been suggested to originate from two main...
18.
Simard M, Mourier A, Greaves L, Taylor R, Stewart J
J Pathol
. 2018 Apr;
245(3):311-323.
PMID: 29660116
Defects in the respiratory chain, interfering with energy production in the cell, are major underlying causes of mitochondrial diseases. In spite of this, the surprising variety of clinical symptoms, disparity...
19.
Matic S, Jiang M, Nicholls T, Uhler J, Dirksen-Schwanenland C, Loguercio Polosa P, et al.
Nat Commun
. 2018 Mar;
9(1):1202.
PMID: 29572490
Replication of mammalian mitochondrial DNA (mtDNA) is an essential process that requires high fidelity and control at multiple levels to ensure proper mitochondrial function. Mutations in the mitochondrial genome maintenance...
20.
Kauppila J, Baines H, Bratic A, Simard M, Freyer C, Mourier A, et al.
Cell Rep
. 2016 Sep;
16(11):2980-2990.
PMID: 27626666
Mutations of mtDNA are an important cause of human disease, but few animal models exist. Because mammalian mitochondria cannot be transfected, the development of mice with pathogenic mtDNA mutations has...