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Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III.

Investigative ophthalmology & visual science - 21 Jun 2011

Powell Kate A, Davies Jennifer R, Taylor Elaine, Wride Michael A, Votruba Marcela

Abstract excerpt

PURPOSE: To investigate the developmental and ocular expression of Opa3 in a mouse model of 3-methylglutaconicaciduria type III and the effect of mutation on protein localization and mitochondrial morphology. METHODS: The B6 C3-Opa3(L122P) mouse carrying a missense mutation in exon 2 (c.365T>C; p.L122P) of Opa3, which displays features of recessive 3-methylglutaconic aciduria type III was studied. The expression...

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PMID: 21613372
DOI: 10.1167/iovs.10-6406

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