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Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.
Peter B, Waddington CL, Oláhová M, Sommerville EW, Hopton S, Pyle A, Champion M, Ohlson M, Siibak T, Chrzanowska-Lightowlers ZMA, Taylor RW, Falkenberg M, Lightowlers RN. Peter B, et al. Among authors: olahova m. Hum Mol Genet. 2018 May 15;27(10):1743-1753. doi: 10.1093/hmg/ddy080. Hum Mol Genet. 2018. PMID: 29518248 Free PMC article.
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: olahova m. EMBO Mol Med. 2018 Nov;10(11):e9060. doi: 10.15252/emmm.201809060. EMBO Mol Med. 2018. PMID: 30201738 Free PMC article.
Emerging roles of ATG7 in human health and disease.
Collier JJ, Suomi F, Oláhová M, McWilliams TG, Taylor RW. Collier JJ, et al. Among authors: olahova m. EMBO Mol Med. 2021 Dec 7;13(12):e14824. doi: 10.15252/emmm.202114824. Epub 2021 Nov 2. EMBO Mol Med. 2021. PMID: 34725936 Free PMC article. Review.
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Sommerville EW, Zhou XL, Oláhová M, Jenkins J, Euro L, Konovalova S, Hilander T, Pyle A, He L, Habeebu S, Saunders C, Kelsey A, Morris AAM, McFarland R, Suomalainen A, Gorman GS, Wang ED, Thiffault I, Tyynismaa H, Taylor RW. Sommerville EW, et al. Among authors: olahova m. Hum Mol Genet. 2019 Jan 15;28(2):258-268. doi: 10.1093/hmg/ddy294. Hum Mol Genet. 2019. PMID: 30285085 Free PMC article.
40 results