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Journal Abstract Search

296 related items for 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 10; 9():22. PubMed ID: 18783614
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  • 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 Sep 10; 6(6):e21347. PubMed ID: 21731710
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  • 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 15; 351(1-2):99-108. PubMed ID: 25796301
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  • 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 15; 41(10):1855-65. PubMed ID: 19389487
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  • 5. OPA1 disease-causing mutants have domain-specific effects on mitochondrial ultrastructure and fusion.
    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 21; 120(12):e2207471120. PubMed ID: 36927155
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  • 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 21; 131(Pt 2):352-67. PubMed ID: 18222991
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  • 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 21; 130(Pt 4):1029-42. PubMed ID: 17314202
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  • 10. Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene.
    García-López M, Jiménez-Vicente L, González-Jabardo R, Dorado H, Gómez-Manjón I, Martín MÁ, Ayuso C, Arenas J, Gallardo ME.
    Int J Mol Sci; 2024 Jun 30; 25(13):. PubMed ID: 39000346
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  • 11. 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 30; 43(6):1715-24. PubMed ID: 12036970
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  • 14. 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 30; 1822(10):1570-80. PubMed ID: 22800932
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  • 15. 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 01; 16(11):1307-18. PubMed ID: 17428816
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  • 16. 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 22; 64(6):966-72. PubMed ID: 15781809
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  • 19. 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 01; 17(21):3291-302. PubMed ID: 18678599
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