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Items: 1 to 20 of 95

1.

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.

Baruffini E, Horvath R, Dallabona C, Czermin B, Lamantea E, Bindoff L, Invernizzi F, Ferrero I, Zeviani M, Lodi T.

Mitochondrion. 2011 Jan;11(1):182-90. doi: 10.1016/j.mito.2010.09.007. Epub 2010 Sep 29.

PMID:
20883824
2.

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;134(9):951-66. doi: 10.1007/s00439-015-1578-x. Epub 2015 Jun 16.

3.

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.

4.

Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast.

Baruffini E, Serafini F, Ferrero I, Lodi T.

PLoS One. 2012;7(3):e34322. doi: 10.1371/journal.pone.0034322. Epub 2012 Mar 28.

5.

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 1;15(19):2846-55. Epub 2006 Aug 29.

PMID:
16940310
6.

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
7.

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
8.
9.

A cluster of pathogenic mutations in the 3'-5' exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation.

Szczepanowska K, Foury F.

Hum Mol Genet. 2010 Sep 15;19(18):3516-29. doi: 10.1093/hmg/ddq267. Epub 2010 Jul 3.

PMID:
20601675
10.

Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.

Baruffini E, Ferrari J, Dallabona C, Donnini C, Lodi T.

Mitochondrion. 2015 Jan;20:52-63. doi: 10.1016/j.mito.2014.11.003. Epub 2014 Nov 18.

11.

Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.

Farnum GA, Nurminen A, Kaguni LS.

Biochim Biophys Acta. 2014 Jul;1837(7):1113-21. doi: 10.1016/j.bbabio.2014.01.021. Epub 2014 Feb 7.

12.

MMS exposure promotes increased MtDNA mutagenesis in the presence of replication-defective disease-associated DNA polymerase γ variants.

Stumpf JD, Copeland WC.

PLoS Genet. 2014 Oct 23;10(10):e1004748. doi: 10.1371/journal.pgen.1004748. eCollection 2014 Oct.

14.

Yeast cells expressing the human mitochondrial DNA polymerase reveal correlations between polymerase fidelity and human disease progression.

Qian Y, Kachroo AH, Yellman CM, Marcotte EM, Johnson KA.

J Biol Chem. 2014 Feb 28;289(9):5970-85. doi: 10.1074/jbc.M113.526418. Epub 2014 Jan 7.

15.

Yeast mitochondrial DNA polymerase is a highly processive single-subunit enzyme.

Viikov K, Väljamäe P, Sedman J.

Mitochondrion. 2011 Jan;11(1):119-26. doi: 10.1016/j.mito.2010.08.007. Epub 2010 Aug 31.

PMID:
20807588
16.

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.

Stumpf JD, Copeland WC.

Cell Mol Life Sci. 2011 Jan;68(2):219-33. doi: 10.1007/s00018-010-0530-4. Epub 2010 Oct 8. Review.

17.

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.

20.

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.

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