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184 related items for PubMed ID: 39000346

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.
    Sladen PE, Jovanovic K, Guarascio R, Ottaviani D, Salsbury G, Novoselova T, Chapple JP, Yu-Wai-Man P, Cheetham ME.
    Hum Mol Genet; 2022 Oct 10; 31(20):3478-3493. PubMed ID: 35652445
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  • 3. 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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  • 4. 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 09; 41(6):563-569. PubMed ID: 32940104
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  • 5. 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 09; 41(10):1855-65. PubMed ID: 19389487
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  • 6. Influence of Opa1 Mutation on Survival and Function of Retinal Ganglion Cells.
    González-Menéndez I, Reinhard K, Tolivia J, Wissinger B, Münch TA.
    Invest Ophthalmol Vis Sci; 2015 Jul 09; 56(8):4835-45. PubMed ID: 26218912
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  • 8. 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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  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets.
    Chen J, Riazifar H, Guan MX, Huang T.
    Stem Cell Res Ther; 2016 Jan 07; 7():2. PubMed ID: 26738566
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  • 11. 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 07; 130(Pt 4):1029-42. PubMed ID: 17314202
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  • 14. A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis.
    Zhang J, Liu X, Liang X, Lu Y, Zhu L, Fu R, Ji Y, Fan W, Chen J, Lin B, Yuan Y, Jiang P, Zhou X, Guan MX.
    Sci Rep; 2017 Jul 18; 7(1):5704. PubMed ID: 28720802
    [Abstract] [Full Text] [Related]

  • 15. 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 18; 83():100935. PubMed ID: 33340656
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  • 18. OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy.
    White KE, Davies VJ, Hogan VE, Piechota MJ, Nichols PP, Turnbull DM, Votruba M.
    Invest Ophthalmol Vis Sci; 2009 Jun 18; 50(6):2567-71. PubMed ID: 19234344
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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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  • 20. 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 01; 46():262-269. PubMed ID: 30165240
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