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Journal Abstract Search

268 related items for PubMed ID: 28430993

  • 1. A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
    Siibak T, Clemente P, Bratic A, Bruhn H, Kauppila TES, Macao B, Schober FA, Lesko N, Wibom R, Naess K, Nennesmo I, Wedell A, Peter B, Freyer C, Falkenberg M, Wredenberg A.
    Hum Mol Genet; 2017 Jul 01; 26(13):2515-2525. PubMed ID: 28430993
    [Abstract] [Full Text] [Related]

  • 2. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
    Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C.
    Nat Genet; 2001 Jul 01; 28(3):211-2. PubMed ID: 11431686
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  • 3. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
    Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A.
    Lancet; 2001 Jul 01; 364(9437):875-82. PubMed ID: 15351195
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  • 4. Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.
    Ponamarev MV, Longley MJ, Nguyen D, Kunkel TA, Copeland WC.
    J Biol Chem; 2002 May 03; 277(18):15225-8. PubMed ID: 11897778
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  • 5. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
    González-Vioque E, Blázquez A, Fernández-Moreira D, Bornstein B, Bautista J, Arpa J, Navarro C, Campos Y, Fernández-Moreno MA, Garesse R, Arenas J, Martín MA.
    Arch Neurol; 2006 Jan 03; 63(1):107-11. PubMed ID: 16401742
    [Abstract] [Full Text] [Related]

  • 6. Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.
    Baruffini E, Lodi T, Dallabona C, Puglisi A, Zeviani M, Ferrero I.
    Hum Mol Genet; 2006 Oct 01; 15(19):2846-55. PubMed ID: 16940310
    [Abstract] [Full Text] [Related]

  • 7. Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.
    Stuart GR, Santos JH, Strand MK, Van Houten B, Copeland WC.
    Hum Mol Genet; 2006 Jan 15; 15(2):363-74. PubMed ID: 16368709
    [Abstract] [Full Text] [Related]

  • 8. Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.
    Kaliszewska M, Kruszewski J, Kierdaszuk B, Kostera-Pruszczyk A, Nojszewska M, Łusakowska A, Vizueta J, Sabat D, Lutyk D, Lower M, Piekutowska-Abramczuk D, Kaniak-Golik A, Pronicka E, Kamińska A, Bartnik E, Golik P, Tońska K.
    Hum Genet; 2015 Sep 15; 134(9):951-66. PubMed ID: 26077851
    [Abstract] [Full Text] [Related]

  • 9. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.
    Van Goethem G, Martin JJ, Van Broeckhoven C.
    Acta Neurol Belg; 2002 Mar 15; 102(1):39-42. PubMed ID: 12094562
    [Abstract] [Full Text] [Related]

  • 10. The unfolding clinical spectrum of POLG mutations.
    Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E, de Visser M, Poll-The BT, Bierau J, de Coo IF, Smeets HJ.
    J Med Genet; 2009 Nov 15; 46(11):776-85. PubMed ID: 19578034
    [Abstract] [Full Text] [Related]

  • 11. Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].
    Roos S, Macao B, Fusté JM, Lindberg C, Jemt E, Holme E, Moslemi AR, Oldfors A, Falkenberg M.
    Hum Mol Genet; 2013 Jun 15; 22(12):2411-22. PubMed ID: 23446635
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  • 17. Defects in mitochondrial DNA replication and human disease.
    Copeland WC.
    Crit Rev Biochem Mol Biol; 2012 Jun 15; 47(1):64-74. PubMed ID: 22176657
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  • 18. [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].
    Posada IJ, Gallardo ME, Domínguez C, Rivera H, Cabello A, Arenas J, Martín MA, Garesse R, Bornstein B.
    Med Clin (Barc); 2010 Oct 02; 135(10):452-5. PubMed ID: 20576279
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  • 19. Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.
    Wanrooij S, Luoma P, van Goethem G, van Broeckhoven C, Suomalainen A, Spelbrink JN.
    Nucleic Acids Res; 2004 Oct 02; 32(10):3053-64. PubMed ID: 15181170
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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