title: OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
authors.forename: P
authors.initials: P
authors.lastname: Reynier
authors.forename: P
authors.initials: P
authors.lastname: Amati-Bonneau
authors.forename: C
authors.initials: C
authors.lastname: Verny
authors.forename: A
authors.initials: A
authors.lastname: Olichon
authors.forename: G
authors.initials: G
authors.lastname: Simard
authors.forename: A
authors.initials: A
authors.lastname: Guichet
authors.forename: C
authors.initials: C
authors.lastname: Bonnemains
authors.forename: F
authors.initials: F
authors.lastname: Malecaze
authors.forename: M C
authors.initials: MC
authors.lastname: Malinge
authors.forename: J B
authors.initials: JB
authors.lastname: Pelletier
authors.forename: P
authors.initials: P
authors.lastname: Calvas
authors.forename: H
authors.initials: H
authors.lastname: Dollfus
authors.forename: P
authors.initials: P
authors.lastname: Belenguer
authors.forename: Y
authors.initials: Y
authors.lastname: Malthièry
authors.forename: G
authors.initials: G
authors.lastname: Lenaers
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D017209:Apoptosis / Q000187:drug effects; D002386:Cataract / Q000150:complications* / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005347:Fibroblasts; D005602:France; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007223:Infant; D008126:Lod Score; D008297:Male; D008564:Membrane Potentials; D008875:Middle Aged; D008928:Mitochondria / Q000378:metabolism; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D029241:Optic Atrophy, Autosomal Dominant / Q000150:complications* / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D019311:Staurosporine / Q000494:pharmacology
chemical_list: C443108:OPA3 protein, human; D011506:Proteins; D019311:Staurosporine