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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: solaini g. 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
Diffusion limited component of mitochondrial F1-ATPase.
Baracca A, Solaini G, Dinelli G, Parenti Castelli G, Lenaz G. Baracca A, et al. Among authors: solaini g. Int J Biochem. 1993 May;25(5):701-6. doi: 10.1016/0020-711x(93)90356-j. Int J Biochem. 1993. PMID: 8349011
111 results