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Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
PLoS Genet. 2013;9(12):e1004034. doi: 10.1371/journal.pgen.1004034. Epub 2013 Dec 26.
PLoS Genet. 2013.
PMID: 24385928
Free PMC article.
Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I.
Stroud DA, Formosa LE, Wijeyeratne XW, Nguyen TN, Ryan MT.
Stroud DA, et al. Among authors: wijeyeratne xw.
J Biol Chem. 2013 Jan 18;288(3):1685-90. doi: 10.1074/jbc.C112.436766. Epub 2012 Dec 5.
J Biol Chem. 2013.
PMID: 23223238
Free PMC article.
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Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4fky/fky mouse.
Bird MJ, Wijeyeratne XW, Komen JC, Laskowski A, Ryan MT, Thorburn DR, Frazier AE.
Bird MJ, et al. Among authors: wijeyeratne xw.
Biosci Rep. 2014 Nov 21;34(6):e00151. doi: 10.1042/BSR20140151.
Biosci Rep. 2014.
PMID: 25312000
Free PMC article.
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Deficiency in Apoptosis-Inducing Factor Recapitulates Chronic Kidney Disease via Aberrant Mitochondrial Homeostasis.
Coughlan MT, Higgins GC, Nguyen TV, Penfold SA, Thallas-Bonke V, Tan SM, Ramm G, Van Bergen NJ, Henstridge DC, Sourris KC, Harcourt BE, Trounce IA, Robb PM, Laskowski A, McGee SL, Genders AJ, Walder K, Drew BG, Gregorevic P, Qian H, Thomas MC, Jerums G, Macisaac RJ, Skene A, Power DA, Ekinci EI, Wijeyeratne XW, Gallo LA, Herman-Edelstein M, Ryan MT, Cooper ME, Thorburn DR, Forbes JM.
Coughlan MT, et al. Among authors: wijeyeratne xw.
Diabetes. 2016 Apr;65(4):1085-98. doi: 10.2337/db15-0864. Epub 2016 Jan 28.
Diabetes. 2016.
PMID: 26822084
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