Article
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.
Journal of cellular physiology - 1 May 2007
Olichon Aurélien, Landes Thomas, Arnauné-Pelloquin Laetitia, Emorine Laurent J, Mils Valérie, Guichet Agnès, Delettre Cécile, Hamel Christian, Amati-Bonneau Patrizia, Bonneau Dominique, Reynier Pascal, Lenaers Guy, Belenguer Pascale
Abstract excerpt
To characterize the molecular links between type-1 autosomal dominant optic atrophy (ADOA) and OPA1 dysfunctions, the effects of pathogenic alleles of this dynamin on mitochondrial morphology and apoptosis were analyzed, either in fibroblasts from affected individuals, or in HeLa cells transfected with similar mutants. The alleles were missense substitutions in the GTPase domain (OPA1(G300E) and OPA1(R290Q)) or...
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