Ontology highlight
ABSTRACT:
SUBMITTER: Mayorov VI
PROVIDER: S-EPMC2547100 | biostudies-literature | 2008 Sep
REPOSITORIES: biostudies-literature
Mayorov Vladimir I VI Lowrey Angela J AJ Biousse Valerie V Newman Nancy J NJ Cline Susan D SD Brown Michael D MD
BMC biochemistry 20080910
<h4>Background</h4>Autosomal dominant optic atrophy (ADOA), a form of progressive bilateral blindness due to loss of retinal ganglion cells and optic nerve deterioration, arises predominantly from mutations in the nuclear gene for the mitochondrial GTPase, OPA1. OPA1 localizes to mitochondrial cristae in the inner membrane where electron transport chain complexes are enriched. While OPA1 has been characterized for its role in mitochondrial cristae structure and organelle fusion, possible effects ...[more]