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414 related items for PubMed ID: 30848931

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Deoxyribonucleoside treatment rescues EtBr-induced mtDNA depletion in iPSC-derived neural stem cells with POLG mutations.
    Kristiansen CK, Furriol J, Chen A, Sullivan GJ, Bindoff LA, Liang KX.
    FASEB J; 2023 Sep; 37(9):e23139. PubMed ID: 37584631
    [Abstract] [Full Text] [Related]

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

  • 4. Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cells.
    Pontarin G, Ferraro P, Bee L, Reichard P, Bianchi V.
    Proc Natl Acad Sci U S A; 2012 Aug 14; 109(33):13302-7. PubMed ID: 22847445
    [Abstract] [Full Text] [Related]

  • 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 14; 63(1):107-11. PubMed ID: 16401742
    [Abstract] [Full Text] [Related]

  • 6. Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency.
    Saada A.
    Mol Genet Metab; 2008 Nov 14; 95(3):169-73. PubMed ID: 18723380
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
    González-Vioque E, Torres-Torronteras J, Andreu AL, Martí R.
    PLoS Genet; 2011 Mar 01; 7(3):e1002035. PubMed ID: 21483760
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. The molecular characterisation of mitochondrial DNA deficient oocytes using a pig model.
    Tsai TS, Tyagi S, St John JC.
    Hum Reprod; 2018 May 01; 33(5):942-953. PubMed ID: 29546367
    [Abstract] [Full Text] [Related]

  • 11. No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells.
    Steffann J, Pouliet A, Adjal H, Bole C, Fourrage C, Martinovic J, Rolland-Galmiche L, Rotig A, Tores F, Munnich A, Bonnefont JP.
    J Med Genet; 2017 May 01; 54(5):324-329. PubMed ID: 28069933
    [Abstract] [Full Text] [Related]

  • 12. Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency.
    Saada A, Ben-Shalom E, Zyslin R, Miller C, Mandel H, Elpeleg O.
    Biochem Biophys Res Commun; 2003 Oct 24; 310(3):963-6. PubMed ID: 14550298
    [Abstract] [Full Text] [Related]

  • 13. In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells.
    Spelbrink JN, Toivonen JM, Hakkaart GA, Kurkela JM, Cooper HM, Lehtinen SK, Lecrenier N, Back JW, Speijer D, Foury F, Jacobs HT.
    J Biol Chem; 2000 Aug 11; 275(32):24818-28. PubMed ID: 10827171
    [Abstract] [Full Text] [Related]

  • 14. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
    Elpeleg O, Mandel H, Saada A.
    J Mol Med (Berl); 2002 Jul 11; 80(7):389-96. PubMed ID: 12110944
    [Abstract] [Full Text] [Related]

  • 15. The mtDNA mutation spectrum in the PolG mutator mouse reveals germline and somatic selection.
    Maclaine KD, Stebbings KA, Llano DA, Havird JC.
    BMC Genom Data; 2021 Nov 26; 22(1):52. PubMed ID: 34823474
    [Abstract] [Full Text] [Related]

  • 16. The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.
    Gilea AI, Magistrati M, Notaroberto I, Tiso N, Dallabona C, Baruffini E.
    IUBMB Life; 2023 Dec 26; 75(12):983-1002. PubMed ID: 37470284
    [Abstract] [Full Text] [Related]

  • 17. The mitochondrial DNA polymerase gamma degrades linear DNA fragments precluding the formation of deletions.
    Nissanka N, Bacman SR, Plastini MJ, Moraes CT.
    Nat Commun; 2018 Jun 27; 9(1):2491. PubMed ID: 29950568
    [Abstract] [Full Text] [Related]

  • 18. 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 27; 15(2):445-56. PubMed ID: 19538466
    [Abstract] [Full Text] [Related]

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