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Items: 1 to 20 of 192

1.

Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesis.

Singh KK, Ayyasamy V, Owens KM, Koul MS, Vujcic M.

J Hum Genet. 2009 Sep;54(9):516-24. doi: 10.1038/jhg.2009.71. Epub 2009 Jul 24.

2.

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. doi: 10.1074/jbc.M116.773341. Epub 2017 Feb 2.

PMID:
28154168
3.

Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.

Singh B, Owens KM, Bajpai P, Desouki MM, Srinivasasainagendra V, Tiwari HK, Singh KK.

PLoS One. 2015 Oct 15;10(10):e0139846. doi: 10.1371/journal.pone.0139846. eCollection 2015.

4.

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. doi: 10.1186/1471-2377-11-4.

5.

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.

6.

mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.

Stumpf JD, Bailey CM, Spell D, Stillwagon M, Anderson KS, Copeland WC.

Hum Mol Genet. 2010 Jun 1;19(11):2123-33. doi: 10.1093/hmg/ddq089. Epub 2010 Feb 25.

7.

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;63(1):107-11.

PMID:
16401742
8.

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;30(2):248-54. doi: 10.1002/humu.20852.

PMID:
18828154
9.

Mitochondrial DNA mutations and breast tumorigenesis.

Yadav N, Chandra D.

Biochim Biophys Acta. 2013 Dec;1836(2):336-44. doi: 10.1016/j.bbcan.2013.10.002. Epub 2013 Oct 16. Review.

10.

Part II. Mitochondrial mutational status of high nitric oxide adapted cell line BT-20 (BT-20-HNO) as it relates to human primary breast tumors.

De Vitto H, Mendonça BS, Elseth KM, Vesper BJ, Portari EA, Gallo CV, Paradise WA, Rumjanek FD, Radosevich JA.

Tumour Biol. 2013 Feb;34(1):337-47. doi: 10.1007/s13277-012-0555-4. Epub 2012 Dec 14.

PMID:
23238816
11.

Mitochondrial DNA polymerase-gamma and human disease.

Hudson G, Chinnery PF.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R244-52. Review.

PMID:
16987890
12.

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. doi: 10.1093/hmg/ddv509. Epub 2015 Dec 21.

PMID:
26692522
13.

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;46(11):776-85. doi: 10.1136/jmg.2009.067686. Epub 2009 Jul 2.

PMID:
19578034
14.

Human REV3 DNA Polymerase Zeta Localizes to Mitochondria and Protects the Mitochondrial Genome.

Singh B, Li X, Owens KM, Vanniarajan A, Liang P, Singh KK.

PLoS One. 2015 Oct 13;10(10):e0140409. doi: 10.1371/journal.pone.0140409. eCollection 2015.

15.

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 2;43(21):10338-52. doi: 10.1093/nar/gkv1139. Epub 2015 Oct 30.

16.

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. Epub 2005 Dec 20.

PMID:
16368709
17.

The mitochondrial DNA polymerase in health and disease.

Copeland WC.

Subcell Biochem. 2010;50:211-22. doi: 10.1007/978-90-481-3471-7_11. Review.

18.

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

Chan SS, Copeland WC.

Biochim Biophys Acta. 2009 May;1787(5):312-9. doi: 10.1016/j.bbabio.2008.10.007. Epub 2008 Oct 29. Review.

19.

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;54(5):324-329. doi: 10.1136/jmedgenet-2016-104335. Epub 2017 Jan 9.

PMID:
28069933
20.

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.

Cohen BH, Naviaux RK.

Methods. 2010 Aug;51(4):364-73. doi: 10.1016/j.ymeth.2010.05.008. Epub 2010 Jun 15. Review.

PMID:
20558295

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