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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW. Alston CL, et al. Among authors: taylor rw, taylor ls. Am J Hum Genet. 2018 Oct 4;103(4):592-601. doi: 10.1016/j.ajhg.2018.08.013. Epub 2018 Sep 20. Am J Hum Genet. 2018. PMID: 30245030 Free PMC article.
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW. Alston CL, et al. Among authors: taylor rw, taylor ls. Am J Hum Genet. 2020 Jan 2;106(1):92-101. doi: 10.1016/j.ajhg.2019.12.001. Epub 2019 Dec 19. Am J Hum Genet. 2020. PMID: 31866046 Free PMC article.
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease.
Correia SP, Moedas MF, Taylor LS, Naess K, Lim AZ, McFarland R, Kazior Z, Rumyantseva A, Wibom R, Engvall M, Bruhn H, Lesko N, Végvári Á, Käll L, Trost M, Alston CL, Freyer C, Taylor RW, Wedell A, Wredenberg A. Correia SP, et al. Among authors: taylor rw, taylor ls. JCI Insight. 2024 Oct 22;9(20):e178645. doi: 10.1172/jci.insight.178645. JCI Insight. 2024. PMID: 39288270 Free PMC article.
COA5 has an essential role in the early stage of mitochondrial complex IV assembly.
Tang JX, Cabrera-Orefice A, Meisterknecht J, Taylor LS, Monteuuis G, Stensland ME, Szczepanek A, Stals K, Davison J, He L, Hopton S, Nyman TA, Jackson CB, Pyle A, Winter M, Wittig I, Taylor RW. Tang JX, et al. Among authors: taylor ls. Life Sci Alliance. 2025 Jan 8;8(3):e202403013. doi: 10.26508/lsa.202403013. Print 2025 Mar. Life Sci Alliance. 2025. PMID: 39779219 Free PMC article.
523 results