These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

261 related articles for article (PubMed ID: 31276579)

  • 1. 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; 28(22):3792-3804. PubMed ID: 31276579
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 282(47):34039-47. PubMed ID: 17855363
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 66(8):951-7. PubMed ID: 19667215
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene.
    Kara B; Arıkan M; Maraş H; Abacı N; Cakıris A; Ustek D
    Mol Genet Metab; 2012 Nov; 107(3):389-93. PubMed ID: 22819295
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 1860(1):52-59. PubMed ID: 30414414
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 12(8):812-20. PubMed ID: 24118886
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 515(2):372-5. PubMed ID: 23266623
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).
    Claeys KG; Abicht A; Häusler M; Kleinle S; Wiesmann M; Schulz JB; Horvath R; Weis J
    Muscle Nerve; 2016 Aug; 54(2):328-33. PubMed ID: 27015314
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular Basis of the Pathogenic Mechanism Induced by the m.9191T>C Mutation in Mitochondrial
    Su X; Dautant A; Godard F; Bouhier M; Zoladek T; Kucharczyk R; di Rago JP; Tribouillard-Tanvier D
    Int J Mol Sci; 2020 Jul; 21(14):. PubMed ID: 32708436
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 100():200-6. PubMed ID: 24316278
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 1767(7):913-9. PubMed ID: 17568559
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.
    Mordel P; Schaeffer S; Dupas Q; Laville MA; Gérard M; Chapon F; Allouche S
    Biochem Biophys Res Commun; 2017 Dec; 494(1-2):133-137. PubMed ID: 29054413
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Increasing mitochondrial substrate-level phosphorylation can rescue respiratory growth of an ATP synthase-deficient yeast.
    Schwimmer C; Lefebvre-Legendre L; Rak M; Devin A; Slonimski PP; di Rago JP; Rigoulet M
    J Biol Chem; 2005 Sep; 280(35):30751-9. PubMed ID: 15975925
    [TBL] [Abstract][Full Text] [Related]  

  • 15. NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.
    López-Gallardo E; Solano A; Herrero-Martín MD; Martínez-Romero I; Castaño-Pérez MD; Andreu AL; Herrera A; López-Pérez MJ; Ruiz-Pesini E; Montoya J
    J Med Genet; 2009 Jan; 46(1):64-7. PubMed ID: 19124644
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 1797(6-7):1105-12. PubMed ID: 20056103
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 124(1):71-81. PubMed ID: 29602698
    [TBL] [Abstract][Full Text] [Related]  

  • 18. NARP mutation and mtDNA depletion trigger mitochondrial biogenesis which can be modulated by selenite supplementation.
    Wojewoda M; Duszyński J; Szczepanowska J
    Int J Biochem Cell Biol; 2011 Aug; 43(8):1178-86. PubMed ID: 21550418
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 8(3):704-710. PubMed ID: 33476484
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 18(15):2889-98. PubMed ID: 19454486
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.