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Journal Abstract Search

215 related items for PubMed ID: 30157269

  • 1. 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; 13(8):e0203198. PubMed ID: 30157269
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  • 5. Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
    Varma H, Faust PL, Iglesias AD, Lagana SM, Wou K, Hirano M, DiMauro S, Mansukani MM, Hoff KE, Nagy PL, Copeland WC, Naini AB.
    Eur J Med Genet; 2016 Oct; 59(10):540-5. PubMed ID: 27592148
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  • 6. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.
    Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF.
    Am J Hum Genet; 2006 Jun; 78(6):1026-34. PubMed ID: 16685652
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  • 8. Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment.
    Brañas Casas R, Zuppardo A, Risato G, Dinarello A, Celeghin R, Fontana C, Grelloni E, Gilea AI, Viscomi C, Rasola A, Dalla Valle L, Lodi T, Baruffini E, Facchinello N, Argenton F, Tiso N.
    Cell Death Dis; 2024 Apr 20; 15(4):281. PubMed ID: 38643274
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  • 9. Structure-specific roles for PolG2-DNA complexes in maintenance and replication of mitochondrial DNA.
    Wojtaszek JL, Hoff KE, Longley MJ, Kaur P, Andres SN, Wang H, Williams RS, Copeland WC.
    Nucleic Acids Res; 2023 Oct 13; 51(18):9716-9732. PubMed ID: 37592734
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  • 10. Consequences of compromised mitochondrial genome integrity.
    Gustafson MA, Sullivan ED, Copeland WC.
    DNA Repair (Amst); 2020 Sep 13; 93():102916. PubMed ID: 33087282
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  • 11. 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 13; 15(2):445-56. PubMed ID: 19538466
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  • 12. Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance.
    Humble MM, Young MJ, Foley JF, Pandiri AR, Travlos GS, Copeland WC.
    Hum Mol Genet; 2013 Mar 01; 22(5):1017-25. PubMed ID: 23197651
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  • 13. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
    Cohen BH, Naviaux RK.
    Methods; 2010 Aug 01; 51(4):364-73. PubMed ID: 20558295
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  • 14. Defects in mitochondrial DNA replication and human disease.
    Copeland WC.
    Crit Rev Biochem Mol Biol; 2012 Aug 01; 47(1):64-74. PubMed ID: 22176657
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  • 15. Human mitochondrial DNA replication machinery and disease.
    Young MJ, Copeland WC.
    Curr Opin Genet Dev; 2016 Jun 01; 38():52-62. PubMed ID: 27065468
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  • 16. 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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  • 17. 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 15; 1812(3):321-5. PubMed ID: 21138766
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  • 18. Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.
    Chan SS, Copeland WC.
    Methods Mol Biol; 2009 Mar 15; 554():59-72. PubMed ID: 19513667
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  • 19. The fidelity of human DNA polymerase gamma with and without exonucleolytic proofreading and the p55 accessory subunit.
    Longley MJ, Nguyen D, Kunkel TA, Copeland WC.
    J Biol Chem; 2001 Oct 19; 276(42):38555-62. PubMed ID: 11504725
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  • 20. Reduced stimulation of recombinant DNA polymerase γ and mitochondrial DNA (mtDNA) helicase by variants of mitochondrial single-stranded DNA-binding protein (mtSSB) correlates with defects in mtDNA replication in animal cells.
    Oliveira MT, Kaguni LS.
    J Biol Chem; 2011 Nov 25; 286(47):40649-58. PubMed ID: 21953457
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