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Journal Abstract Search

195 related items for PubMed ID: 19667215

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  • 2. 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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  • 3. 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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  • 4. 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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  • 9. 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 23; 1767(7):913-9. PubMed ID: 17568559
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  • 10. Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.
    Uittenbogaard M, Brantner CA, Fang Z, Wong LC, Gropman A, Chiaramello A.
    Mol Genet Metab; 2018 May 23; 124(1):71-81. PubMed ID: 29602698
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  • 11. Hypoxic preconditioning-induced mitochondrial protection is not disrupted in a cell model of mtDNA T8993G mutation-induced F1F0-ATP synthase defect: the role of mitochondrial permeability transition.
    Huang WY, Jou MJ, Peng TI.
    Free Radic Biol Med; 2014 Feb 23; 67():314-29. PubMed ID: 24291231
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  • 13. A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.
    Duno M, Wibrand F, Baggesen K, Rosenberg T, Kjaer N, Frederiksen AL.
    Gene; 2013 Feb 25; 515(2):372-5. PubMed ID: 23266623
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  • 14. Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA.
    Sgarbi G, Baracca A, Lenaz G, Valentino LM, Carelli V, Solaini G.
    Biochem J; 2006 May 01; 395(3):493-500. PubMed ID: 16402916
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  • 15. 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 May 01; 1797(6-7):1105-12. PubMed ID: 20056103
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  • 17. The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants.
    Mattiazzi M, Vijayvergiya C, Gajewski CD, DeVivo DC, Lenaz G, Wiedmann M, Manfredi G.
    Hum Mol Genet; 2004 Apr 15; 13(8):869-79. PubMed ID: 14998933
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  • 20. Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy.
    Licchetta L, Ferri L, La Morgia C, Zenesini C, Caporali L, Lucia Valentino M, Minardi R, Fulitano D, Di Vito L, Mostacci B, Alvisi L, Avoni P, Liguori R, Tinuper P, Bisulli F, Carelli V.
    Ann Clin Transl Neurol; 2021 Mar 15; 8(3):704-710. PubMed ID: 33476484
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