Article
OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation.
Human molecular genetics - 1 Jun 2010
Ban Tadato, Heymann Jürgen A W, Song Zhiyin, Hinshaw Jenny E, Chan David C
Abstract excerpt
The dynamin-related GTPase OPA1 is mutated in autosomal dominant optic atrophy (DOA) (Kjer type), an inherited neuropathy of the retinal ganglion cells. OPA1 is essential for the fusion of the inner mitochondrial membranes, but its mechanism of action remains poorly understood. Here we show that...
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