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A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.
Spinazzi M, Cazzola S, Bortolozzi M, Baracca A, Loro E, Casarin A, Solaini G, Sgarbi G, Casalena G, Cenacchi G, Malena A, Frezza C, Carrara F, Angelini C, Scorrano L, Salviati L, Vergani L. Spinazzi M, et al. Among authors: frezza c. Hum Mol Genet. 2008 Nov 1;17(21):3291-302. doi: 10.1093/hmg/ddn225. Epub 2008 Aug 4. Hum Mol Genet. 2008. PMID: 18678599
Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency.
Cogliati S, Frezza C, Soriano ME, Varanita T, Quintana-Cabrera R, Corrado M, Cipolat S, Costa V, Casarin A, Gomes LC, Perales-Clemente E, Salviati L, Fernandez-Silva P, Enriquez JA, Scorrano L. Cogliati S, et al. Among authors: frezza c. Cell. 2013 Sep 26;155(1):160-71. doi: 10.1016/j.cell.2013.08.032. Epub 2013 Sep 19. Cell. 2013. PMID: 24055366 Free PMC article.
Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase.
Frezza C, Zheng L, Folger O, Rajagopalan KN, MacKenzie ED, Jerby L, Micaroni M, Chaneton B, Adam J, Hedley A, Kalna G, Tomlinson IP, Pollard PJ, Watson DG, Deberardinis RJ, Shlomi T, Ruppin E, Gottlieb E. Frezza C, et al. Nature. 2011 Aug 17;477(7363):225-8. doi: 10.1038/nature10363. Nature. 2011. PMID: 21849978
246 results