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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: loro e. 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
MBNL142 and MBNL143 gene isoforms, overexpressed in DM1-patient muscle, encode for nuclear proteins interacting with Src family kinases.
Botta A, Malena A, Tibaldi E, Rocchi L, Loro E, Pena E, Cenci L, Ambrosi E, Bellocchi MC, Pagano MA, Novelli G, Rossi G, Monaco HL, Gianazza E, Pantic B, Romeo V, Marin O, Brunati AM, Vergani L. Botta A, et al. Among authors: loro e. Cell Death Dis. 2013 Aug 15;4(8):e770. doi: 10.1038/cddis.2013.291. Cell Death Dis. 2013. PMID: 23949219 Free PMC article.
43 results