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Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity.
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 …
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