Ontology highlight
ABSTRACT:
SUBMITTER: Kane MS
PROVIDER: S-EPMC5618673 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Kane Mariame Selma MS Alban Jennifer J Desquiret-Dumas Valérie V Gueguen Naïg N Ishak Layal L Ferre Marc M Amati-Bonneau Patrizia P Procaccio Vincent V Bonneau Dominique D Lenaers Guy G Reynier Pascal P Chevrollier Arnaud A
Journal of cellular and molecular medicine 20170404 10
Optic Atrophy 1 (OPA1) gene mutations cause diseases ranging from isolated dominant optic atrophy (DOA) to various multisystemic disorders. OPA1, a large GTPase belonging to the dynamin family, is involved in mitochondrial network dynamics. The majority of OPA1 mutations encodes truncated forms of the protein and causes DOA through haploinsufficiency, whereas missense OPA1 mutations are predicted to cause disease through deleterious dominant-negative mechanisms. We used 3D imaging and biochemica ...[more]