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Journal Abstract Search

231 related items for PubMed ID: 19234344

  • 1.
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  • 2. 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
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  • 4. Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy.
    Heiduschka P, Schnichels S, Fuhrmann N, Hofmeister S, Schraermeyer U, Wissinger B, Alavi MV.
    Invest Ophthalmol Vis Sci; 2010 Mar; 51(3):1424-31. PubMed ID: 19834041
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  • 6. Opa1 Deficiency Leads to Diminished Mitochondrial Bioenergetics With Compensatory Increased Mitochondrial Motility.
    Sun S, Erchova I, Sengpiel F, Votruba M.
    Invest Ophthalmol Vis Sci; 2020 Jun 03; 61(6):42. PubMed ID: 32561926
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  • 7. Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer.
    Aijaz S, Erskine L, Jeffery G, Bhattacharya SS, Votruba M.
    Invest Ophthalmol Vis Sci; 2004 Jun 03; 45(6):1667-73. PubMed ID: 15161824
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  • 8. Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.
    Sarzi E, Seveno M, Angebault C, Milea D, Rönnbäck C, Quilès M, Adrian M, Grenier J, Caignard A, Lacroux A, Lavergne C, Reynier P, Larsen M, Hamel CP, Delettre C, Lenaers G, Müller A.
    Hum Mol Genet; 2016 Jun 15; 25(12):2539-2551. PubMed ID: 27260406
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  • 9. Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy.
    Williams PA, Morgan JE, Votruba M.
    Brain; 2010 Oct 15; 133(10):2942-51. PubMed ID: 20817698
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  • 10. Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy.
    Yu-Wai-Man P, Davies VJ, Piechota MJ, Cree LM, Votruba M, Chinnery PF.
    Invest Ophthalmol Vis Sci; 2009 Oct 15; 50(10):4561-6. PubMed ID: 19443720
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  • 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 15; 83():100935. PubMed ID: 33340656
    [Abstract] [Full Text] [Related]

  • 12. Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function.
    Lei Q, Xiang K, Cheng L, Xiang M.
    Stem Cell Reports; 2024 Jan 09; 19(1):68-83. PubMed ID: 38101398
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  • 13. Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy.
    Zaninello M, Palikaras K, Naon D, Iwata K, Herkenne S, Quintana-Cabrera R, Semenzato M, Grespi F, Ross-Cisneros FN, Carelli V, Sadun AA, Tavernarakis N, Scorrano L.
    Nat Commun; 2020 Aug 12; 11(1):4029. PubMed ID: 32788597
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  • 14. OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model.
    Sarzi E, Seveno M, Piro-Mégy C, Elzière L, Quilès M, Péquignot M, Müller A, Hamel CP, Lenaers G, Delettre C.
    Sci Rep; 2018 Feb 06; 8(1):2468. PubMed ID: 29410463
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  • 15. A randomized, placebo-controlled trial of the benzoquinone idebenone in a mouse model of OPA1-related dominant optic atrophy reveals a limited therapeutic effect on retinal ganglion cell dendropathy and visual function.
    Smith TG, Seto S, Ganne P, Votruba M.
    Neuroscience; 2016 Apr 05; 319():92-106. PubMed ID: 26820596
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  • 16. The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.
    Sarzi E, Angebault C, Seveno M, Gueguen N, Chaix B, Bielicki G, Boddaert N, Mausset-Bonnefont AL, Cazevieille C, Rigau V, Renou JP, Wang J, Delettre C, Brabet P, Puel JL, Hamel CP, Reynier P, Lenaers G.
    Brain; 2012 Dec 05; 135(Pt 12):3599-613. PubMed ID: 23250881
    [Abstract] [Full Text] [Related]

  • 17. Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.
    Rönnbäck C, Nissen C, Almind GJ, Grønskov K, Milea D, Larsen M.
    Acta Ophthalmol; 2015 Dec 05; 93(8):762-6. PubMed ID: 26385429
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  • 18. Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy.
    Perganta G, Barnard AR, Katti C, Vachtsevanos A, Douglas RH, MacLaren RE, Votruba M, Sekaran S.
    PLoS One; 2013 Dec 05; 8(2):e56350. PubMed ID: 23409176
    [Abstract] [Full Text] [Related]

  • 19. 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 05; 48(9):4079-86. PubMed ID: 17724190
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  • 20. 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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