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2. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Thiselton DL; Alexander C; Taanman JW; Brooks S; Rosenberg T; Eiberg H; Andreasson S; Van Regemorter N; Munier FL; Moore AT; Bhattacharya SS; Votruba M Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1715-24. PubMed ID: 12036970 [TBL] [Abstract][Full Text] [Related]
3. OPA1-associated disorders: phenotypes and pathophysiology. Amati-Bonneau P; Milea D; Bonneau D; Chevrollier A; Ferré M; Guillet V; Gueguen N; Loiseau D; de Crescenzo MA; Verny C; Procaccio V; Lenaers G; Reynier P Int J Biochem Cell Biol; 2009 Oct; 41(10):1855-65. PubMed ID: 19389487 [TBL] [Abstract][Full Text] [Related]
4. Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Baris O; Delettre C; Amati-Bonneau P; Surget MO; Charlin JF; Catier A; Derieux L; Guyomard JL; Dollfus H; Jonveaux P; Ayuso C; Maumenee I; Lorenz B; Mohammed S; Tourmen Y; Bonneau D; Malthièry Y; Hamel C; Reynier P Hum Mutat; 2003 Jun; 21(6):656. PubMed ID: 14961560 [TBL] [Abstract][Full Text] [Related]
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6. Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. Kim JY; Hwang JM; Ko HS; Seong MW; Park BJ; Park SS Neurology; 2005 Mar; 64(6):966-72. PubMed ID: 15781809 [TBL] [Abstract][Full Text] [Related]
8. Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy. Dadgar S; Hagens O; Dadgar SR; Haghighi EN; Schimpf S; Wissinger B; Garshasbi M Exp Eye Res; 2006 Sep; 83(3):702-6. PubMed ID: 16698014 [TBL] [Abstract][Full Text] [Related]
9. Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency. Kushnareva Y; Seong Y; Andreyev AY; Kuwana T; Kiosses WB; Votruba M; Newmeyer DD Cell Death Dis; 2016 Jul; 7(7):e2309. PubMed ID: 27468686 [TBL] [Abstract][Full Text] [Related]
10. Changes in Mitochondrial Morphology and Bioenergetics in Human Lymphoblastoid Cells With Four Novel OPA1 Mutations. Kao SH; Yen MY; Wang AG; Yeh YL; Lin AL Invest Ophthalmol Vis Sci; 2015 Apr; 56(4):2269-78. PubMed ID: 25744979 [TBL] [Abstract][Full Text] [Related]
11. Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations. Ito Y; Nakamura M; Yamakoshi T; Lin J; Yatsuya H; Terasaki H Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4079-86. PubMed ID: 17724190 [TBL] [Abstract][Full Text] [Related]
12. OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain. Bette S; Schlaszus H; Wissinger B; Meyermann R; Mittelbronn M Acta Neuropathol; 2005 Apr; 109(4):393-9. PubMed ID: 15700187 [TBL] [Abstract][Full Text] [Related]
17. OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Zanna C; Ghelli A; Porcelli AM; Karbowski M; Youle RJ; Schimpf S; Wissinger B; Pinti M; Cossarizza A; Vidoni S; Valentino ML; Rugolo M; Carelli V Brain; 2008 Feb; 131(Pt 2):352-67. PubMed ID: 18222991 [TBL] [Abstract][Full Text] [Related]
18. A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family. Zhang L; Shi W; Song L; Zhang X; Cheng L; Wang Y; Ge X; Li W; Zhang W; Min Q; Jin ZB; Qu J; Gu F Sci Rep; 2014 Nov; 4():6936. PubMed ID: 25374051 [TBL] [Abstract][Full Text] [Related]