Article
Mitochondrial Ca2+ uptake correlates with the severity of the symptoms in autosomal dominant optic atrophy.
Cell calcium - 1 Jan 2015
Fülöp László, Rajki Anikó, Maka Erika, Molnár Mária Judit, Spät András
Abstract excerpt
The most frequent form of hereditary blindness, autosomal dominant optic atrophy (ADOA), is caused by the mutation of the mitochondrial protein Opa1 and the ensuing degeneration of retinal ganglion cells. Previously we found that knockdown of OPA1 enhanced mitochondrial Ca(2+) uptake (Fülöp et al., 2011). Therefore we studied mitochondrial Ca(2+) metabolism in fibroblasts obtained from members of an ADOA family....
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