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Journal Abstract Search

490 related items for PubMed ID: 19269308

  • 1. Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients.
    Kucharczyk R, Rak M, di Rago JP.
    Biochim Biophys Acta; 2009 May; 1793(5):817-24. PubMed ID: 19269308
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  • 2. A yeast model of the neurogenic ataxia retinitis pigmentosa (NARP) T8993G mutation in the mitochondrial ATP synthase-6 gene.
    Rak M, Tetaud E, Duvezin-Caubet S, Ezkurdia N, Bietenhader M, Rytka J, di Rago JP.
    J Biol Chem; 2007 Nov 23; 282(47):34039-47. PubMed ID: 17855363
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  • 3. Consequences of the pathogenic T9176C mutation of human mitochondrial DNA on yeast mitochondrial ATP synthase.
    Kucharczyk R, Ezkurdia N, Couplan E, Procaccio V, Ackerman SH, Blondel M, di Rago JP.
    Biochim Biophys Acta; 2010 Nov 23; 1797(6-7):1105-12. PubMed ID: 20056103
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  • 4. Introducing the human Leigh syndrome mutation T9176G into Saccharomyces cerevisiae mitochondrial DNA leads to severe defects in the incorporation of Atp6p into the ATP synthase and in the mitochondrial morphology.
    Kucharczyk R, Salin B, di Rago JP.
    Hum Mol Genet; 2009 Aug 01; 18(15):2889-98. PubMed ID: 19454486
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  • 5. Defining the impact on yeast ATP synthase of two pathogenic human mitochondrial DNA mutations, T9185C and T9191C.
    Kabala AM, Lasserre JP, Ackerman SH, di Rago JP, Kucharczyk R.
    Biochimie; 2014 May 01; 100():200-6. PubMed ID: 24316278
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  • 6. Yeast cells lacking the mitochondrial gene encoding the ATP synthase subunit 6 exhibit a selective loss of complex IV and unusual mitochondrial morphology.
    Rak M, Tetaud E, Godard F, Sagot I, Salin B, Duvezin-Caubet S, Slonimski PP, Rytka J, di Rago JP.
    J Biol Chem; 2007 Apr 13; 282(15):10853-64. PubMed ID: 17261589
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  • 7. Deregulating mitochondrial metabolite and ion transport has beneficial effects in yeast and human cellular models for NARP syndrome.
    Su X, Rak M, Tetaud E, Godard F, Sardin E, Bouhier M, Gombeau K, Caetano-Anollés D, Salin B, Chen H, di Rago JP, Tribouillard-Tanvier D.
    Hum Mol Genet; 2019 Nov 15; 28(22):3792-3804. PubMed ID: 31276579
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  • 8. Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy.
    Sgarbi G, Casalena GA, Baracca A, Lenaz G, DiMauro S, Solaini G.
    Arch Neurol; 2009 Aug 15; 66(8):951-7. PubMed ID: 19667215
    [Abstract] [Full Text] [Related]

  • 9. Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.
    D'Aurelio M, Vives-Bauza C, Davidson MM, Manfredi G.
    Hum Mol Genet; 2010 Jan 15; 19(2):374-86. PubMed ID: 19875463
    [Abstract] [Full Text] [Related]

  • 10. Functional investigation of an universally conserved leucine residue in subunit a of ATP synthase targeted by the pathogenic m.9176 T>G mutation.
    Kucharczyk R, Dautant A, Godard F, Tribouillard-Tanvier D, di Rago JP.
    Biochim Biophys Acta Bioenerg; 2019 Jan 15; 1860(1):52-59. PubMed ID: 30414414
    [Abstract] [Full Text] [Related]

  • 11. Yeast cells depleted in Atp14p fail to assemble Atp6p within the ATP synthase and exhibit altered mitochondrial cristae morphology.
    Goyon V, Fronzes R, Salin B, di-Rago JP, Velours J, Brèthes D.
    J Biol Chem; 2008 Apr 11; 283(15):9749-58. PubMed ID: 18252710
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  • 16. Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.
    Blanco-Grau A, Bonaventura-Ibars I, Coll-Cantí J, Melià MJ, Martinez R, Martínez-Gallo M, Andreu AL, Pinós T, García-Arumí E.
    Genes Brain Behav; 2013 Nov 11; 12(8):812-20. PubMed ID: 24118886
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  • 17. Stable transformation of CHO Cells and human NARP cybrids confers oligomycin resistance (oli(r)) following transfer of a mitochondrial DNA-encoded oli(r) ATPase6 gene to the nuclear genome: a model system for mtDNA gene therapy.
    Zullo SJ, Parks WT, Chloupkova M, Wei B, Weiner H, Fenton WA, Eisenstadt JM, Merril CR.
    Rejuvenation Res; 2005 Nov 11; 8(1):18-28. PubMed ID: 15798371
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  • 19. Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.
    Baracca A, Sgarbi G, Mattiazzi M, Casalena G, Pagnotta E, Valentino ML, Moggio M, Lenaz G, Carelli V, Solaini G.
    Biochim Biophys Acta; 2007 Jul 11; 1767(7):913-9. PubMed ID: 17568559
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