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Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity.
Navein AE, Cooke EJ, Davies JR, Smith TG, Wells LH, Ohazama A, Healy C, Sharpe PT, Evans SL, Evans BA, Votruba M, Wells T. Navein AE, et al. Hum Mol Genet. 2016 Jun 15;25(12):2404-2416. doi: 10.1093/hmg/ddw107. Epub 2016 Apr 22. Hum Mol Genet. 2016. PMID: 27106103 Free PMC article.
We have, therefore, characterized the skeletal phenotype in the Opa3(L122P) mouse model for Costeff syndrome, in which a missense mutation of the mitochondrial membrane protein, Opa3, impairs mitochondrial activity resulting in visual and metabolic dysfunction. ... …
We have, therefore, characterized the skeletal phenotype in the Opa3(L122P) mouse model for Costeff syndrome, in which a missense mut …
Nuclear and mitochondrial analysis of patients with primary angle-closure glaucoma.
Abu-Amero KK, Morales J, Osman MN, Bosley TM. Abu-Amero KK, et al. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5591-6. doi: 10.1167/iovs.07-0780. Invest Ophthalmol Vis Sci. 2007. PMID: 18055808
In this study, patients with primary angle-closure glaucoma (PACG) were examined for mutations in nuclear genes reported to be associated with glaucoma and for possible mitochondrial abnormalities. METHODS: In patients with PACG, the nuclear genes MYOC, OPTN, CYP1B1, WDR36 …
In this study, patients with primary angle-closure glaucoma (PACG) were examined for mutations in nuclear genes reported to be associated wi …