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The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes.
Ghelli A, Tropeano CV, Calvaruso MA, Marchesini A, Iommarini L, Porcelli AM, Zanna C, De Nardo V, Martinuzzi A, Wibrand F, Vissing J, Kurelac I, Gasparre G, Selamoglu N, Daldal F, Rugolo M. Ghelli A, et al. Among authors: rugolo m. Hum Mol Genet. 2013 Jun 1;22(11):2141-51. doi: 10.1093/hmg/ddt067. Epub 2013 Feb 14. Hum Mol Genet. 2013. PMID: 23418307 Free PMC article.
Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors.
Gasparre G, Porcelli AM, Bonora E, Pennisi LF, Toller M, Iommarini L, Ghelli A, Moretti M, Betts CM, Martinelli GN, Ceroni AR, Curcio F, Carelli V, Rugolo M, Tallini G, Romeo G. Gasparre G, et al. Among authors: rugolo m. Proc Natl Acad Sci U S A. 2007 May 22;104(21):9001-6. doi: 10.1073/pnas.0703056104. Epub 2007 May 15. Proc Natl Acad Sci U S A. 2007. PMID: 17517629 Free PMC article.
100 results