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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: porcelli am. 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.
The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization.
Porcelli AM, Ghelli A, Ceccarelli C, Lang M, Cenacchi G, Capristo M, Pennisi LF, Morra I, Ciccarelli E, Melcarne A, Bartoletti-Stella A, Salfi N, Tallini G, Martinuzzi A, Carelli V, Attimonelli M, Rugolo M, Romeo G, Gasparre G. Porcelli AM, et al. Hum Mol Genet. 2010 Mar 15;19(6):1019-32. doi: 10.1093/hmg/ddp566. Epub 2009 Dec 22. Hum Mol Genet. 2010. PMID: 20028790
Learning from oncocytic tumors: Why choose inefficient mitochondria?
Gasparre G, Romeo G, Rugolo M, Porcelli AM. Gasparre G, et al. Among authors: porcelli am. Biochim Biophys Acta. 2011 Jun;1807(6):633-42. doi: 10.1016/j.bbabio.2010.08.006. Epub 2010 Aug 21. Biochim Biophys Acta. 2011. PMID: 20732299 Free article. Review.
A mutation threshold distinguishes the antitumorigenic effects of the mitochondrial gene MTND1, an oncojanus function.
Gasparre G, Kurelac I, Capristo M, Iommarini L, Ghelli A, Ceccarelli C, Nicoletti G, Nanni P, De Giovanni C, Scotlandi K, Betts CM, Carelli V, Lollini PL, Romeo G, Rugolo M, Porcelli AM. Gasparre G, et al. Among authors: porcelli am. Cancer Res. 2011 Oct 1;71(19):6220-9. doi: 10.1158/0008-5472.CAN-11-1042. Epub 2011 Aug 18. Cancer Res. 2011. PMID: 21852384
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.
Caporali L, Ghelli AM, Iommarini L, Maresca A, Valentino ML, La Morgia C, Liguori R, Zanna C, Barboni P, De Nardo V, Martinuzzi A, Rizzo G, Tonon C, Lodi R, Calvaruso MA, Cappelletti M, Porcelli AM, Achilli A, Pala M, Torroni A, Carelli V. Caporali L, et al. Among authors: porcelli am. Biochim Biophys Acta. 2013 Mar;1832(3):445-52. doi: 10.1016/j.bbadis.2012.12.002. Epub 2012 Dec 14. Biochim Biophys Acta. 2013. PMID: 23246842 Free PMC article.
104 results