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OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.
Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW. Thompson K, et al. Among authors: robertson fm. EMBO Mol Med. 2018 Nov;10(11):e9060. doi: 10.15252/emmm.201809060. EMBO Mol Med. 2018. PMID: 30201738 Free PMC article.
Recent advances in understanding the molecular genetic basis of mitochondrial disease.
Thompson K, Collier JJ, Glasgow RIC, Robertson FM, Pyle A, Blakely EL, Alston CL, Oláhová M, McFarland R, Taylor RW. Thompson K, et al. Among authors: robertson fm. J Inherit Metab Dis. 2020 Jan;43(1):36-50. doi: 10.1002/jimd.12104. Epub 2019 May 10. J Inherit Metab Dis. 2020. PMID: 31021000 Free PMC article. Review.
Age-associated mitochondrial DNA mutations cause metabolic remodelling that contributes to accelerated intestinal tumorigenesis.
Smith AL, Whitehall JC, Bradshaw C, Gay D, Robertson F, Blain AP, Hudson G, Pyle A, Houghton D, Hunt M, Sampson JN, Stamp C, Mallett G, Amarnath S, Leslie J, Oakley F, Wilson L, Baker A, Russell OM, Johnson R, Richardson CA, Gupta B, McCallum I, McDonald SA, Kelly S, Mathers JC, Heer R, Taylor RW, Perkins ND, Turnbull DM, Sansom OJ, Greaves LC. Smith AL, et al. Nat Cancer. 2020 Oct;1(10):976-989. doi: 10.1038/s43018-020-00112-5. Epub 2020 Sep 21. Nat Cancer. 2020. PMID: 33073241 Free PMC article.
The Isolation and Deep Sequencing of Mitochondrial DNA.
Bury AG, Robertson FM, Pyle A, Payne BAI, Hudson G. Bury AG, et al. Among authors: robertson fm. Methods Mol Biol. 2021;2277:433-447. doi: 10.1007/978-1-0716-1270-5_27. Methods Mol Biol. 2021. PMID: 34080167
Author Correction: Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis.
Smith ALM, Whitehall JC, Bradshaw C, Gay D, Robertson F, Blain AP, Hudson G, Pyle A, Houghton D, Hunt M, Sampson JN, Stamp C, Mallett G, Amarnath S, Leslie J, Oakley F, Wilson L, Baker A, Russell OM, Johnson R, Richardson CA, Gupta B, McCallum I, McDonald SAC, Kelly S, Mathers JC, Heer R, Taylor RW, Perkins ND, Turnbull DM, Sansom OJ, Greaves LC. Smith ALM, et al. Nat Cancer. 2021 Jan;2(1):129. doi: 10.1038/s43018-020-00156-7. Nat Cancer. 2021. PMID: 35121898 No abstract available.
109 results