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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.
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.
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.
Hassaan HM, Pyle A, Almenabawy N, Robertson FM, Elkhateeb N, Girgis MY, Mahmoud IGED, Amer F, Samaha M, Shaheen Y, ElNaggar W, Abdoh D, Mehaney DA, Meguid IEA, Taylor RW, McFarland R, Selim L. Hassaan HM, et al. Among authors: robertson fm. Am J Med Genet A. 2025 Feb;197(2):e63881. doi: 10.1002/ajmg.a.63881. Epub 2024 Oct 14. Am J Med Genet A. 2025. PMID: 39400921
Developmental mitochondrial complex I activity determines lifespan.
Stefanatos R, Robertson F, Castejon-Vega B, Yu Y, Uribe AH, Myers K, Kataura T, Korolchuk VI, Maddocks ODK, Martins LM, Sanz A. Stefanatos R, et al. EMBO Rep. 2025 Apr;26(8):1957-1983. doi: 10.1038/s44319-025-00416-6. Epub 2025 Mar 17. EMBO Rep. 2025. PMID: 40097814 Free PMC article.
111 results