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Items: 1 to 20 of 100

1.

Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.

Sohl CD, Kasiviswanathan R, Copeland WC, Anderson KS.

Hum Mol Genet. 2013 Mar 15;22(6):1074-85. doi: 10.1093/hmg/dds509. Epub 2012 Dec 3.

2.

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.

3.

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.

4.

Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.

Kasiviswanathan R, Longley MJ, Chan SS, Copeland WC.

J Biol Chem. 2009 Jul 17;284(29):19501-10. doi: 10.1074/jbc.M109.011940. Epub 2009 May 28.

5.

Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.

Graziewicz MA, Longley MJ, Bienstock RJ, Zeviani M, Copeland WC.

Nat Struct Mol Biol. 2004 Aug;11(8):770-6. Epub 2004 Jul 18.

PMID:
15258572
6.

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.

7.

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.

Euro L, Farnum GA, Palin E, Suomalainen A, Kaguni LS.

Nucleic Acids Res. 2011 Nov;39(21):9072-84. doi: 10.1093/nar/gkr618. Epub 2011 Aug 8. Review.

8.

Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.

Chan SS, Longley MJ, Copeland WC.

Hum Mol Genet. 2006 Dec 1;15(23):3473-83. Epub 2006 Nov 6.

9.

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
10.

Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.

Kasiviswanathan R, Longley MJ, Young MJ, Copeland WC.

Methods. 2010 Aug;51(4):379-84. doi: 10.1016/j.ymeth.2010.02.015. Epub 2010 Feb 20. Review.

11.

Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.

Chan SS, Copeland WC.

Methods Mol Biol. 2009;554:59-72. doi: 10.1007/978-1-59745-521-3_4.

12.

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.

13.

Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders.

Copeland WC, Ponamarev MV, Nguyen D, Kunkel TA, Longley MJ.

Acta Biochim Pol. 2003;50(1):155-67. Review.

14.

Functional human mitochondrial DNA polymerase gamma forms a heterotrimer.

Yakubovskaya E, Chen Z, Carrodeguas JA, Kisker C, Bogenhagen DF.

J Biol Chem. 2006 Jan 6;281(1):374-82. Epub 2005 Nov 1.

15.

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 3;277(18):15225-8. Epub 2002 Mar 15.

16.

A mechanistic view of human mitochondrial DNA polymerase gamma: providing insight into drug toxicity and mitochondrial disease.

Bailey CM, Anderson KS.

Biochim Biophys Acta. 2010 May;1804(5):1213-22. doi: 10.1016/j.bbapap.2010.01.007. Epub 2010 Jan 18. Review.

17.

Structural determinants in human DNA polymerase gamma account for mitochondrial toxicity from nucleoside analogs.

Lim SE, Ponamarev MV, Longley MJ, Copeland WC.

J Mol Biol. 2003 May 23;329(1):45-57.

PMID:
12742017
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.

Clinical and molecular features of POLG-related mitochondrial disease.

Stumpf JD, Saneto RP, Copeland WC.

Cold Spring Harb Perspect Biol. 2013 Apr 1;5(4):a011395. doi: 10.1101/cshperspect.a011395. Review.

20.

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

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