294 related articles for article (PubMed ID: 18783614)
1. Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy.
Mayorov VI; Lowrey AJ; Biousse V; Newman NJ; Cline SD; Brown MD
BMC Biochem; 2008 Sep; 9():22. PubMed ID: 18783614
[TBL] [Abstract][Full Text] [Related]
2. Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.
Van Bergen NJ; Crowston JG; Kearns LS; Staffieri SE; Hewitt AW; Cohn AC; Mackey DA; Trounce IA
PLoS One; 2011; 6(6):e21347. PubMed ID: 21731710
[TBL] [Abstract][Full Text] [Related]
3. Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.
Formichi P; Radi E; Giorgi E; Gallus GN; Brunetti J; Battisti C; Rufa A; Dotti MT; Franceschini R; Bracci L; Federico A
J Neurol Sci; 2015 Apr; 351(1-2):99-108. PubMed ID: 25796301
[TBL] [Abstract][Full Text] [Related]
4. 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]
5.
Cartes-Saavedra B; Lagos D; Macuada J; Arancibia D; Burté F; Sjöberg-Herrera MK; Andrés ME; Horvath R; Yu-Wai-Man P; Hajnóczky G; Eisner V
Proc Natl Acad Sci U S A; 2023 Mar; 120(12):e2207471120. PubMed ID: 36927155
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy.
Ahuja AS; Selvam P; Vadlamudi C; Chopra H; Richter JE; Macklin SK; Samreen A; Helmi H; Mohammaad AN; Hines S; Davila MC; Atwal PS; Caulfield TR
Ophthalmic Genet; 2020 Dec; 41(6):563-569. PubMed ID: 32940104
[TBL] [Abstract][Full Text] [Related]
8. Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.
Olichon A; Landes T; Arnauné-Pelloquin L; Emorine LJ; Mils V; Guichet A; Delettre C; Hamel C; Amati-Bonneau P; Bonneau D; Reynier P; Lenaers G; Belenguer P
J Cell Physiol; 2007 May; 211(2):423-30. PubMed ID: 17167772
[TBL] [Abstract][Full Text] [Related]
9. A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.
Alavi MV; Bette S; Schimpf S; Schuettauf F; Schraermeyer U; Wehrl HF; Ruttiger L; Beck SC; Tonagel F; Pichler BJ; Knipper M; Peters T; Laufs J; Wissinger B
Brain; 2007 Apr; 130(Pt 4):1029-42. PubMed ID: 17314202
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Dominant optic atrophy: Culprit mitochondria in the optic nerve.
Lenaers G; Neutzner A; Le Dantec Y; Jüschke C; Xiao T; Decembrini S; Swirski S; Kieninger S; Agca C; Kim US; Reynier P; Yu-Wai-Man P; Neidhardt J; Wissinger B
Prog Retin Eye Res; 2021 Jul; 83():100935. PubMed ID: 33340656
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations.
Agier V; Oliviero P; Lainé J; L'Hermitte-Stead C; Girard S; Fillaut S; Jardel C; Bouillaud F; Bulteau AL; Lombès A
Biochim Biophys Acta; 2012 Oct; 1822(10):1570-80. PubMed ID: 22800932
[TBL] [Abstract][Full Text] [Related]
14. Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.
Davies VJ; Hollins AJ; Piechota MJ; Yip W; Davies JR; White KE; Nicols PP; Boulton ME; Votruba M
Hum Mol Genet; 2007 Jun; 16(11):1307-18. PubMed ID: 17428816
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.
Ham M; Han J; Osann K; Smith M; Kimonis V
Mitochondrion; 2019 May; 46():262-269. PubMed ID: 30165240
[TBL] [Abstract][Full Text] [Related]
18. A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.
Spinazzi M; Cazzola S; Bortolozzi M; Baracca A; Loro E; Casarin A; Solaini G; Sgarbi G; Casalena G; Cenacchi G; Malena A; Frezza C; Carrara F; Angelini C; Scorrano L; Salviati L; Vergani L
Hum Mol Genet; 2008 Nov; 17(21):3291-302. PubMed ID: 18678599
[TBL] [Abstract][Full Text] [Related]
19. OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.
Pierron D; Ferré M; Rocher C; Chevrollier A; Murail P; Thoraval D; Amati-Bonneau P; Reynier P; Letellier T
BMC Med Genet; 2009 Jul; 10():70. PubMed ID: 19619285
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
