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182 related items for PubMed ID: 21138766

  • 1. POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.
    Stewart JD, Schoeler S, Sitarz KS, Horvath R, Hallmann K, Pyle A, Yu-Wai-Man P, Taylor RW, Samuels DC, Kunz WS, Chinnery PF.
    Biochim Biophys Acta; 2011 Mar; 1812(3):321-5. PubMed ID: 21138766
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  • 3. Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.
    Blázquez-Bermejo C, Carreño-Gago L, Molina-Granada D, Aguirre J, Ramón J, Torres-Torronteras J, Cabrera-Pérez R, Martín MÁ, Domínguez-González C, de la Cruz X, Lombès A, García-Arumí E, Martí R, Cámara Y.
    FASEB J; 2019 Jun; 33(6):7168-7179. PubMed ID: 30848931
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  • 5. Defects in mitochondrial DNA replication and human disease.
    Copeland WC.
    Crit Rev Biochem Mol Biol; 2012 Jun; 47(1):64-74. PubMed ID: 22176657
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  • 6. Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.
    Schaller A, Hahn D, Jackson CB, Kern I, Chardot C, Belli DC, Gallati S, Nuoffer JM.
    BMC Neurol; 2011 Jan 14; 11():4. PubMed ID: 21235791
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  • 7. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
    Cohen BH, Naviaux RK.
    Methods; 2010 Aug 14; 51(4):364-73. PubMed ID: 20558295
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  • 8. Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.
    Hoff KE, DeBalsi KL, Sanchez-Quintero MJ, Longley MJ, Hirano M, Naini AB, Copeland WC.
    PLoS One; 2018 Aug 14; 13(8):e0203198. PubMed ID: 30157269
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  • 9. POLG mutations and Alpers syndrome.
    Davidzon G, Mancuso M, Ferraris S, Quinzii C, Hirano M, Peters HL, Kirby D, Thorburn DR, DiMauro S.
    Ann Neurol; 2005 Jun 14; 57(6):921-3. PubMed ID: 15929042
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  • 10. Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
    Taanman JW, Rahman S, Pagnamenta AT, Morris AA, Bitner-Glindzicz M, Wolf NI, Leonard JV, Clayton PT, Schapira AH.
    Hum Mutat; 2009 Feb 14; 30(2):248-54. PubMed ID: 18828154
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  • 11. Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.
    Ashley N, Adams S, Slama A, Zeviani M, Suomalainen A, Andreu AL, Naviaux RK, Poulton J.
    Hum Mol Genet; 2007 Jun 15; 16(12):1400-11. PubMed ID: 17483096
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  • 12. Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.
    Müller-Höcker J, Horvath R, Schäfer S, Hessel H, Müller-Felber W, Kühr J, Copeland WC, Seibel P.
    J Cell Mol Med; 2011 Feb 15; 15(2):445-56. PubMed ID: 19538466
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  • 13. Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases.
    Pitayu L, Baruffini E, Rodier C, Rötig A, Lodi T, Delahodde A.
    Hum Mol Genet; 2016 Feb 15; 25(4):715-27. PubMed ID: 26692522
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  • 14. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
    Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R.
    Brain; 2012 Dec 15; 135(Pt 12):3614-26. PubMed ID: 23250882
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  • 15. Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
    Sitarz KS, Elliott HR, Karaman BS, Relton C, Chinnery PF, Horvath R.
    Mol Genet Metab; 2014 May 15; 112(1):57-63. PubMed ID: 24725338
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  • 16. Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.
    DeBalsi KL, Longley MJ, Hoff KE, Copeland WC.
    J Biol Chem; 2017 Mar 10; 292(10):4198-4209. PubMed ID: 28154168
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  • 17. A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
    Rajakulendran S, Pitceathly RD, Taanman JW, Costello H, Sweeney MG, Woodward CE, Jaunmuktane Z, Holton JL, Jacques TS, Harding BN, Fratter C, Hanna MG, Rahman S.
    PLoS One; 2016 Mar 10; 11(1):e0145500. PubMed ID: 26735972
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  • 18. Behavioral and metabolic characterization of heterozygous and homozygous POLG mutator mice.
    Dai Y, Kiselak T, Clark J, Clore E, Zheng K, Cheng A, Kujoth GC, Prolla TA, Maratos-Flier E, Simon DK.
    Mitochondrion; 2013 Jul 10; 13(4):282-91. PubMed ID: 23542163
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  • 19. Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma.
    Zsurka G, Baron M, Stewart JD, Kornblum C, Bös M, Sassen R, Taylor RW, Elger CE, Chinnery PF, Kunz WS.
    J Neuropathol Exp Neurol; 2008 Sep 10; 67(9):857-66. PubMed ID: 18716558
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  • 20. Zebrafish lacking functional DNA polymerase gamma survive to juvenile stage, despite rapid and sustained mitochondrial DNA depletion, altered energetics and growth.
    Rahn JJ, Bestman JE, Stackley KD, Chan SS.
    Nucleic Acids Res; 2015 Dec 02; 43(21):10338-52. PubMed ID: 26519465
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