BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

213 related articles for article (PubMed ID: 34635923)

  • 1. Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.
    Kenvin S; Torregrosa-Muñumer R; Reidelbach M; Pennonen J; Turkia JJ; Rannila E; Kvist J; Sainio MT; Huber N; Herukka SK; Haapasalo A; Auranen M; Trokovic R; Sharma V; Ylikallio E; Tyynismaa H
    Hum Mol Genet; 2022 Mar; 31(6):958-974. PubMed ID: 34635923
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.
    Kytövuori L; Lipponen J; Rusanen H; Komulainen T; Martikainen MH; Majamaa K
    J Neurol; 2016 Nov; 263(11):2188-2195. PubMed ID: 27502083
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.
    Sala D; Marchet S; Nanetti L; Legati A; Mariotti C; Lamantea E; Ghezzi D; Catania A; Lamperti C
    Orphanet J Rare Dis; 2024 May; 19(1):200. PubMed ID: 38755691
    [TBL] [Abstract][Full Text] [Related]  

  • 4. MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
    Ganetzky RD; Stendel C; McCormick EM; Zolkipli-Cunningham Z; Goldstein AC; Klopstock T; Falk MJ
    Hum Mutat; 2019 May; 40(5):499-515. PubMed ID: 30763462
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies.
    Del Dotto V; Musiani F; Baracca A; Solaini G
    Int J Mol Sci; 2024 Feb; 25(4):. PubMed ID: 38396915
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation.
    Hejzlarová K; Kaplanová V; Nůsková H; Kovářová N; Ješina P; Drahota Z; Mráček T; Seneca S; Houštěk J
    Biochem J; 2015 Mar; 466(3):601-11. PubMed ID: 25588698
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.
    Pitceathly RD; Murphy SM; Cottenie E; Chalasani A; Sweeney MG; Woodward C; Mudanohwo EE; Hargreaves I; Heales S; Land J; Holton JL; Houlden H; Blake J; Champion M; Flinter F; Robb SA; Page R; Rose M; Palace J; Crowe C; Longman C; Lunn MP; Rahman S; Reilly MM; Hanna MG
    Neurology; 2012 Sep; 79(11):1145-54. PubMed ID: 22933740
    [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. 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]  

  • 12. 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]  

  • 13. 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; 19(2):374-86. PubMed ID: 19875463
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.
    Na JH; Lee YM
    Acta Neurol Scand; 2022 Apr; 145(4):414-422. PubMed ID: 34877647
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. A Mutation in Mouse MT-ATP6 Gene Induces Respiration Defects and Opposed Effects on the Cell Tumorigenic Phenotype.
    Moreno-Loshuertos R; Movilla N; Marco-Brualla J; Soler-Agesta R; Ferreira P; Enríquez JA; Fernández-Silva P
    Int J Mol Sci; 2023 Jan; 24(2):. PubMed ID: 36674816
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. ATP Synthase Subunit a Supports Permeability Transition in Yeast Lacking Dimerization Subunits and Modulates yPTP Conductance.
    Niedzwiecka K; Baranowska E; Panja C; Kucharczyk R
    Cell Physiol Biochem; 2020 Feb; 54(2):211-229. PubMed ID: 32100973
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.