William C Copeland

William C Copeland

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William C Copeland

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Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.

PLoS One 2018 29;13(8):e0203198. Epub 2018 Aug 29.

Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, DHHS, Research Triangle Park, NC, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203198PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6114919PMC
February 2019

POLG-related disorders and their neurological manifestations.

Nat Rev Neurol 2019 Jan;15(1):40-52

Mitochondrial DNA Replication Group, Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Durham, NC, USA.

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http://www.nature.com/articles/s41582-018-0101-0
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http://dx.doi.org/10.1038/s41582-018-0101-0DOI Listing
January 2019

Single-molecule DREEM imaging reveals DNA wrapping around human mitochondrial single-stranded DNA binding protein.

Nucleic Acids Res 2018 11;46(21):11287-11302

Genome Integrity and Structural Biology Laboratory, NIEHS, NIH, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1093/nar/gky875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6265486PMC
November 2018

The C-terminal tail of the NEIL1 DNA glycosylase interacts with the human mitochondrial single-stranded DNA binding protein.

DNA Repair (Amst) 2018 05 6;65:11-19. Epub 2018 Mar 6.

University of South Alabama, Mitchell Cancer Institute, 1660 Springhill Avenue, Mobile, AL 36604, United States. Electronic address:

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http://dx.doi.org/10.1016/j.dnarep.2018.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911420PMC
May 2018

DNA polymerase β: A missing link of the base excision repair machinery in mammalian mitochondria.

DNA Repair (Amst) 2017 12 28;60:77-88. Epub 2017 Oct 28.

Genome Integrity and Structural Biology Laboratory, National Institutes of Health, NIEHS, 111 T.W. Alexander Drive, P.O. Box 12233, Research Triangle Park, NC 27709, USA. Electronic address:

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http://dx.doi.org/10.1016/j.dnarep.2017.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5919216PMC
December 2017

Complementation of aprataxin deficiency by base excision repair enzymes in mitochondrial extracts.

Nucleic Acids Res 2017 Sep;45(17):10079-10088

Genome Integrity and Structural Biology Laboratory, DNA Repair and Nucleic Acid Enzymology Group, National Institutes of Health, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1093/nar/gkx654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622373PMC
September 2017

Synergistic Effects of the T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.

J Biol Chem 2017 03 2;292(10):4198-4209. Epub 2017 Feb 2.

From the Genome Integrity and Structural Biology Laboratory, NIEHS, National Institutes of Health, Research Triangle Park, North Carolina 27709

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http://dx.doi.org/10.1074/jbc.M116.773341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5354484PMC
March 2017

Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases.

Ageing Res Rev 2017 Jan 30;33:89-104. Epub 2016 Apr 30.

Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA. Electronic address:

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http://dx.doi.org/10.1016/j.arr.2016.04.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5086445PMC
January 2017

DNA polymerases in the mitochondria: A critical review of the evidence.

Front Biosci (Landmark Ed) 2017 01 1;22:692-709. Epub 2017 Jan 1.

Genome Integrity and Structural Biology Laboratory, NIEHS, National Institutes of Health, 111 T.W. Alexander Dr., Bldg. 101, Rm. E316, Research Triangle Park, NC 27709,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5485829PMC
http://dx.doi.org/10.2741/4510DOI Listing
January 2017

DNA polymerase θ specializes in incorporating synthetic expanded-size (xDNA) nucleotides.

Nucleic Acids Res 2016 Nov 2;44(19):9381-9392. Epub 2016 Sep 2.

Fels Institute for Cancer Research, Department of Medical Genetics and Molecular Biochemistry, Temple University Lewis Katz School of Medicine, Philadelphia, PA 19140, USA

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http://dx.doi.org/10.1093/nar/gkw721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5100566PMC
November 2016

Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.

Eur J Med Genet 2016 Oct 31;59(10):540-5. Epub 2016 Aug 31.

Department of Pathology and Cell Biology, Columbia University, 630 W, 168th Street, New York, NY 10032, USA; Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University Medical Center, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045816PMC
http://dx.doi.org/10.1016/j.ejmg.2016.08.012DOI Listing
October 2016

Analysis of Translesion DNA Synthesis by the Mitochondrial DNA Polymerase γ.

Methods Mol Biol 2016 ;1351:19-26

Mitochondrial DNA Replication Group, Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, 111 T.W. Alexander Dr, Building 101, Rm E316, Research Triangle Park, NC, 27709, USA.

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http://dx.doi.org/10.1007/978-1-4939-3040-1_2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5000860PMC
September 2016

Human mitochondrial DNA replication machinery and disease.

Curr Opin Genet Dev 2016 06 9;38:52-62. Epub 2016 Apr 9.

Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, P.O. Box 12233, Research Triangle Park, NC 27709, United States. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5055853PMC
http://dx.doi.org/10.1016/j.gde.2016.03.005DOI Listing
June 2016

POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity.

Hum Mol Genet 2015 Sep 29;24(18):5184-97. Epub 2015 Jun 29.

Genome Integrity and Structural Biology Laboratory, NIEHS, National Institutes of Health, DHHS, Research Triangle Park, NC 27709, USA

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddv240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550827PMC
September 2015

Mitochondria, energetics, epigenetics, and cellular responses to stress.

Environ Health Perspect 2014 Dec 15;122(12):1271-8. Epub 2014 Aug 15.

Division of Extramural Research and Training, National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health (NIH), Department of Health and Human Services (DHHS), Research Triangle Park, North Carolina, USA.

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http://dx.doi.org/10.1289/ehp.1408418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4256704PMC
December 2014

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

PLoS Genet 2014 Oct 23;10(10):e1004748. Epub 2014 Oct 23.

Mitochondrial DNA Replication Group, Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, NIH, DHHS, Research Triangle Park, North Carolina, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207668PMC
October 2014

Defects of mitochondrial DNA replication.

J Child Neurol 2014 Sep 30;29(9):1216-24. Epub 2014 Jun 30.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA

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http://dx.doi.org/10.1177/0883073814537380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4146710PMC
September 2014

Mitochondrial genome maintenance in health and disease.

DNA Repair (Amst) 2014 Jul 26;19:190-8. Epub 2014 Apr 26.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, Durham, NC 27709, USA.

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http://dx.doi.org/10.1016/j.dnarep.2014.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4075028PMC
July 2014

The exonuclease activity of the yeast mitochondrial DNA polymerase γ suppresses mitochondrial DNA deletions between short direct repeats in Saccharomyces cerevisiae.

Genetics 2013 Jun 15;194(2):519-22. Epub 2013 Apr 15.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1534/genetics.113.150920DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664861PMC
June 2013

Translesion synthesis past acrolein-derived DNA adducts by human mitochondrial DNA polymerase γ.

J Biol Chem 2013 May 30;288(20):14247-55. Epub 2013 Mar 30.

Mitochondrial DNA Replication Group, Laboratory of Molecular Genetics, NIEHS, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA.

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http://dx.doi.org/10.1074/jbc.M113.458802DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656281PMC
May 2013

Clinical and molecular features of POLG-related mitochondrial disease.

Cold Spring Harb Perspect Biol 2013 Apr 1;5(4):a011395. Epub 2013 Apr 1.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1101/cshperspect.a011395DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683902PMC
April 2013

Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance.

Hum Mol Genet 2013 Mar 29;22(5):1017-25. Epub 2012 Nov 29.

Mitochondrial DNA Replication Group, Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, NIH, DHHS, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1093/hmg/dds506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3561914PMC
March 2013

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

Hum Mol Genet 2013 Mar 3;22(6):1074-85. Epub 2012 Dec 3.

Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1093/hmg/dds509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578408PMC
March 2013

Alpers-Huttenlocher syndrome.

Pediatr Neurol 2013 Mar;48(3):167-78

Division of Pediatric Neurology and Neurology, Seattle Children's Hospital/University of Washington, Seattle, WA 98105, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578656PMC
March 2013

The interface of transcription and DNA replication in the mitochondria.

Biochim Biophys Acta 2012 Sep-Oct;1819(9-10):970-8. Epub 2011 Dec 20.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1016/j.bbagrm.2011.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334424PMC
October 2012

Defects in mitochondrial DNA replication and human disease.

Crit Rev Biochem Mol Biol 2012 Jan-Feb;47(1):64-74

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Durham, North Carolina 27709, USA.

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http://dx.doi.org/10.3109/10409238.2011.632763DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244805PMC
April 2012

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.

Mitochondrion 2012 Mar 4;12(2):313-9. Epub 2011 Dec 4.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1016/j.mito.2011.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824628PMC
March 2012

Human mitochondrial DNA polymerase γ exhibits potential for bypass and mutagenesis at UV-induced cyclobutane thymine dimers.

J Biol Chem 2012 Mar 21;287(12):9222-9. Epub 2011 Dec 21.

Laboratory of Molecular Genetics, NIEHS, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA.

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http://dx.doi.org/10.1074/jbc.M111.306852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308766PMC
March 2012

A novel gene mutation in a patient with SANDO.

J Exp Integr Med 2012 ;2(2)

Department of Neurology, Columbia University Medical Center, New York, NY.

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http://dx.doi.org/10.5455/jeim.200312.cr.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832984PMC
January 2012

Biochemical analysis of the G517V POLG variant reveals wild-type like activity.

Mitochondrion 2011 Nov 11;11(6):929-34. Epub 2011 Aug 11.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1016/j.mito.2011.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3206148PMC
November 2011

Ribonucleotide discrimination and reverse transcription by the human mitochondrial DNA polymerase.

J Biol Chem 2011 Sep 21;286(36):31490-500. Epub 2011 Jul 21.

Laboratory of Molecular Genetics, NIEHS, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA.

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http://dx.doi.org/10.1074/jbc.M111.252460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173122PMC
September 2011

Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

Hum Mol Genet 2011 Aug 9;20(15):3052-66. Epub 2011 May 9.

Laboratory of Molecular Genetics, NIEHS, National Institutes of Health, DHHS, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1093/hmg/ddr209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3131046PMC
August 2011

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

Cell Mol Life Sci 2011 Jan 8;68(2):219-33. Epub 2010 Oct 8.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.

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http://link.springer.com/10.1007/s00018-010-0530-4
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http://dx.doi.org/10.1007/s00018-010-0530-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3046768PMC
January 2011

Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.

J Biol Chem 2010 Sep 20;285(39):29690-702. Epub 2010 Jul 20.

Laboratory of Molecular Genetics, NIEHS, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M110.151795
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http://dx.doi.org/10.1074/jbc.M110.151795DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2943296PMC
September 2010

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

Methods 2010 Aug 20;51(4):379-84. Epub 2010 Feb 20.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S104620231000089
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http://dx.doi.org/10.1016/j.ymeth.2010.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901396PMC
August 2010

Understanding heterogeneous diseases in mtDNA maintenance.

Methods 2010 Aug;51(4):363

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, 111 TW Alexander Dr., Research Triangle Park, NC 27709, United States.

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http://dx.doi.org/10.1016/j.ymeth.2010.07.008DOI Listing
August 2010

The mitochondrial DNA polymerase in health and disease.

Subcell Biochem 2010 ;50:211-22

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Durham, NC 27709, USA.

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http://dx.doi.org/10.1007/978-90-481-3471-7_11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960799PMC
June 2010

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

Hum Mol Genet 2010 Jun 25;19(11):2123-33. Epub 2010 Feb 25.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes ofHealth, Research, Triangle Park, NC 27709, USA.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddq089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2865372PMC
June 2010

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

Methods Mol Biol 2009 ;554:59-72

Mitochondrial DNA Replication Group, Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA.

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http://dx.doi.org/10.1007/978-1-59745-521-3_4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2886993PMC
October 2009

Preparation of human mitochondrial single-stranded DNA-binding protein.

Methods Mol Biol 2009 ;554:73-85

Mitochondrial DNA Replication Group, Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, Query, NC, USA.

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http://dx.doi.org/10.1007/978-1-59745-521-3_5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953565PMC
October 2009

De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

Mitochondrion 2009 Sep 6;9(5):340-5. Epub 2009 Jun 6.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institute of Health, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1016/j.mito.2009.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2748142PMC
September 2009

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

J Biol Chem 2009 Jul 28;284(29):19501-10. Epub 2009 May 28.

Laboratory of Molecular Genetics, NIEHS, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M109.011940
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http://dx.doi.org/10.1074/jbc.M109.011940DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740576PMC
July 2009

Transcriptional response to mitochondrial NADH kinase deficiency in Saccharomyces cerevisiae.

Mitochondrion 2009 Jun 28;9(3):211-21. Epub 2009 Feb 28.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1016/j.mito.2009.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672114PMC
June 2009

R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity.

Antimicrob Agents Chemother 2009 Jun 13;53(6):2610-2. Epub 2009 Apr 13.

Department of Pharmacology, Yale University School of Medicine, 333 Cedar St., New Haven, CT 06520, USA.

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http://dx.doi.org/10.1128/AAC.01659-08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687208PMC
June 2009

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

Biochim Biophys Acta 2009 May 29;1787(5):312-9. Epub 2008 Oct 29.

National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1016/j.bbabio.2008.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2742478PMC
May 2009

Human DNA polymerase theta possesses 5'-dRP lyase activity and functions in single-nucleotide base excision repair in vitro.

Nucleic Acids Res 2009 Apr 2;37(6):1868-77. Epub 2009 Feb 2.

Laboratory of Structural Biology, NIEHS, National Institutes of Health, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1093/nar/gkp035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665223PMC
April 2009

Construction and application of a protein and genetic interaction network (yeast interactome).

Nucleic Acids Res 2009 Apr 9;37(7):e54. Epub 2009 Mar 9.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences and Life Sciences Division, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1093/nar/gkp140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2673449PMC
April 2009

DNA2 resolves expanding flap in mitochondrial base excision repair.

Mol Cell 2008 Nov;32(4):457-8

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1016/j.molcel.2008.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3967838PMC
November 2008

Long patch base excision repair in mammalian mitochondrial genomes.

J Biol Chem 2008 Sep 17;283(39):26349-56. Epub 2008 Jul 17.

Department of Biochemistry and Molecular Biology, University of Texas Medical Branch, Galveston, Texas 77555, USA.

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http://dx.doi.org/10.1074/jbc.M803491200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2546560PMC
September 2008

Inherited mitochondrial diseases of DNA replication.

Annu Rev Med 2008 ;59:131-46

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina 27709, USA.

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http://dx.doi.org/10.1146/annurev.med.59.053006.104646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2271032PMC
May 2008

The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine.

Hum Mol Genet 2007 Nov 27;16(22):2729-39. Epub 2007 Aug 27.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1093/hmg/ddm227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2131726PMC
November 2007

Mitochondrial toxicity in hearts of CD-1 mice following perinatal exposure to AZT, 3TC, or AZT/3TC in combination.

Environ Mol Mutagen 2007 Apr-May;48(3-4):190-200

Laboratory of Molecular Genetics, National Institute of Environmental HealthSciences, National Institutes of Health, Research Triangle Park, North Carolina, USA.

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http://dx.doi.org/10.1002/em.20191DOI Listing
May 2007

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

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

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1093/hmg/ddl424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1780027PMC
December 2006

Origins of human mitochondrial point mutations as DNA polymerase gamma-mediated errors.

Mutat Res 2006 Jul 20;599(1-2):11-20. Epub 2006 Feb 20.

Biological Engineering Division, Massachusetts Institute of Technology, Cambridge, 02139, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S002751070600027
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http://dx.doi.org/10.1016/j.mrfmmm.2005.12.012DOI Listing
July 2006

Molecular diagnosis of Alpers syndrome.

J Hepatol 2006 Jul 20;45(1):108-16. Epub 2006 Feb 20.

Department of Medicine, University of California, San Diego School of Medicine, 214 Dickinson Street, Bldg. CTF, Rm. C-103, San Diego, CA 92103-8467, USA.

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http://dx.doi.org/10.1016/j.jhep.2005.12.026DOI Listing
July 2006

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.

Am J Hum Genet 2006 Jun 4;78(6):1026-34. Epub 2006 May 4.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA.

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http://dx.doi.org/10.1086/504303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474082PMC
June 2006

DNA polymerase gamma in mitochondrial DNA replication and repair.

Chem Rev 2006 Feb;106(2):383-405

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina 27709, USA.

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http://dx.doi.org/10.1021/cr040463dDOI Listing
February 2006

Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

Hum Mol Genet 2006 Jan 20;15(2):363-74. Epub 2005 Dec 20.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1093/hmg/ddi454DOI Listing
January 2006

Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.

DNA Repair (Amst) 2005 Dec 21;4(12):1381-9. Epub 2005 Sep 21.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institute of Health, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1016/j.dnarep.2005.08.010DOI Listing
December 2005

The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

J Biol Chem 2005 Sep 16;280(36):31341-6. Epub 2005 Jul 16.

Laboratory of Molecular Genetics, NIEHS, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA.

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http://dx.doi.org/10.1074/jbc.M506762200DOI Listing
September 2005

Oxidative stress-induced apoptosis in neurons correlates with mitochondrial DNA base excision repair pathway imbalance.

Nucleic Acids Res 2005 17;33(14):4660-71. Epub 2005 Aug 17.

Department of Cell Biology and Neuroscience, University of South Alabama, Mobile, AL 36688, USA.

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http://dx.doi.org/10.1093/nar/gki759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1187820PMC
August 2005

Consequences of mutations in human DNA polymerase gamma.

Gene 2005 Jul;354:125-31

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, P.O. Box 12233, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1016/j.gene.2005.03.029DOI Listing
July 2005

DNA precursor asymmetries in mammalian tissue mitochondria and possible contribution to mutagenesis through reduced replication fidelity.

Proc Natl Acad Sci U S A 2005 Apr 22;102(14):4990-5. Epub 2005 Mar 22.

Department of Biochemistry and Biophysics, Oregon State University, 2011 ALS, Corvallis, OR 97331-7305, USA.

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http://dx.doi.org/10.1073/pnas.0500253102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC555996PMC
April 2005

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

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

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA.

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http://dx.doi.org/10.1038/nsmb805DOI Listing
August 2004

Nucleotide incorporation by human DNA polymerase gamma opposite benzo[a]pyrene and benzo[c]phenanthrene diol epoxide adducts of deoxyguanosine and deoxyadenosine.

Nucleic Acids Res 2004 16;32(1):397-405. Epub 2004 Jan 16.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, DHHS, PO Box 12233, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1093/nar/gkh213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC373300PMC
February 2004

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

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

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences,Research Triangle Park, North Carolina 27709, USA.

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http://dx.doi.org/035001155DOI Listing
December 2003

Reduction in frataxin causes progressive accumulation of mitochondrial damage.

Hum Mol Genet 2003 Dec 21;12(24):3331-42. Epub 2003 Oct 21.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1093/hmg/ddg349DOI Listing
December 2003

Mitochondrial toxicity of NRTI antiviral drugs: an integrated cellular perspective.

Nat Rev Drug Discov 2003 Oct;2(10):812-22

Emory University, Department of Pathology, 1639 Pierce Drive, Room 7117, Atlanta, Georgia 30322, USA.

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http://www.nature.com/articles/nrd1201
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October 2003

POS5 gene of Saccharomyces cerevisiae encodes a mitochondrial NADH kinase required for stability of mitochondrial DNA.

Eukaryot Cell 2003 Aug;2(4):809-20

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina 27709, USA.

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http://dx.doi.org/10.1128/ec.2.4.809-820.2003DOI Listing
August 2003

Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency.

J Clin Invest 2003 Jun;111(12):1913-21

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.

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http://dx.doi.org/10.1172/JCI17828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC161426PMC
June 2003

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

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

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, P.O. Box 12233, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1016/s0022-2836(03)00405-4DOI Listing
May 2003

DNA polymerase gamma in mitochondrial DNA replication and repair.

ScientificWorldJournal 2003 Mar 17;3:34-44. Epub 2003 Mar 17.

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, P.O. Box 12233, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1100/tsw.2003.09DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974855PMC
March 2003

Measuring mtDNA mutation rates in Saccharomyces cerevisiae using the mtArg8 assay.

Methods Mol Biol 2002 ;197:151-7

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA.

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http://dx.doi.org/10.1385/1-59259-284-8:151DOI Listing
November 2002

Purification, separation, and identification of the human mtDNA polymerase with and without its accessory subunit.

Methods Mol Biol 2002 ;197:245-57

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA.

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http://dx.doi.org/10.1385/1-59259-284-8:245DOI Listing
November 2002

Mitochondrial DNA. Methods and protocols. Introduction.

Methods Mol Biol 2002 ;197:v-vi

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November 2002

The mitochondrial DNA polymerase as a target of oxidative damage.

Nucleic Acids Res 2002 Jul;30(13):2817-24

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, PO Box 12233, 111 TW Alexander Drive, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1093/nar/gkf392DOI Listing
July 2002

Mitochondrial DNA alterations in cancer.

Cancer Invest 2002 ;20(4):557-69

Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, P.O. Box 12233, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1081/cnv-120002155DOI Listing
July 2002

Base composition at mtDNA boundaries suggests a DNA triple helix model for human mitochondrial DNA large-scale rearrangements.

Mol Genet Metab 2002 Jun;76(2):123-32

EMI 99.29 INSERM, Génétique Mitochondriale, Université Victor Segalen Bordeaux 2, 146 rue Léo Saignat, 33076 Bordeaux Cedex, France.

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June 2002

Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.

J Biol Chem 2002 May 15;277(18):15225-8. Epub 2002 Mar 15.

Laboratory of Molecular Genetics, NIEHS, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA.

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http://dx.doi.org/10.1074/jbc.C200100200DOI Listing
May 2002