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Items: 1 to 50 of 130

1.

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

Sharma N, Chakravarthy S, Longley MJ, Copeland WC, Prakash A.

DNA Repair (Amst). 2018 May;65:11-19. doi: 10.1016/j.dnarep.2018.02.012. Epub 2018 Mar 6.

PMID:
29522991
2.

POLG-Related Disorders.

Cohen BH, Chinnery PF, Copeland WC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2010 Mar 16 [updated 2018 Mar 1].

3.

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

Prasad R, Çağlayan M, Dai DP, Nadalutti CA, Zhao ML, Gassman NR, Janoshazi AK, Stefanick DF, Horton JK, Krasich R, Longley MJ, Copeland WC, Griffith JD, Wilson SH.

DNA Repair (Amst). 2017 Dec;60:77-88. doi: 10.1016/j.dnarep.2017.10.011. Epub 2017 Oct 28.

PMID:
29100041
4.

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

Çaglayan M, Prasad R, Krasich R, Longley MJ, Kadoda K, Tsuda M, Sasanuma H, Takeda S, Tano K, Copeland WC, Wilson SH.

Nucleic Acids Res. 2017 Sep 29;45(17):10079-10088. doi: 10.1093/nar/gkx654.

5.

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.

6.

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.

Van Maldergem L, Besse A, De Paepe B, Blakely EL, Appadurai V, Humble MM, Piard J, Craig K, He L, Hella P, Debray FG, Martin JJ, Gaussen M, Laloux P, Stevanin G, Van Coster R, Taylor RW, Copeland WC, Mormont E, Bonnen PE.

Ann Clin Transl Neurol. 2016 Nov 16;4(1):4-14. doi: 10.1002/acn3.361. eCollection 2017 Jan.

7.

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

Krasich R, Copeland WC.

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

8.

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

Kent T, Rusanov TD, Hoang TM, Velema WA, Krueger AT, Copeland WC, Kool ET, Pomerantz RT.

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

9.

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

Varma H, Faust PL, Iglesias AD, Lagana SM, Wou K, Hirano M, DiMauro S, Mansukani MM, Hoff KE, Nagy PL, Copeland WC, Naini AB.

Eur J Med Genet. 2016 Oct;59(10):540-5. doi: 10.1016/j.ejmg.2016.08.012. Epub 2016 Aug 31.

10.

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

DeBalsi KL, Hoff KE, Copeland WC.

Ageing Res Rev. 2017 Jan;33:89-104. doi: 10.1016/j.arr.2016.04.006. Epub 2016 Apr 30. Review.

11.

Human mitochondrial DNA replication machinery and disease.

Young MJ, Copeland WC.

Curr Opin Genet Dev. 2016 Jun;38:52-62. doi: 10.1016/j.gde.2016.03.005. Epub 2016 Apr 9. Review.

12.

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

Copeland WC, Kasiviswanathan R, Longley MJ.

Methods Mol Biol. 2016;1351:19-26. doi: 10.1007/978-1-4939-3040-1_2.

13.

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

Young MJ, Humble MM, DeBalsi KL, Sun KY, Copeland WC.

Hum Mol Genet. 2015 Sep 15;24(18):5184-97. doi: 10.1093/hmg/ddv240. Epub 2015 Jun 29.

14.

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.

Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X; MSeqDR Consortium Participants; MSeqDR Consortium participants: Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church,; Rosanna Clima, Bruce H. Cohen, Richard G. Cotton, IFM de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre,; Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H. Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki,; Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe,; Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong.

Mol Genet Metab. 2015 Mar;114(3):388-96. doi: 10.1016/j.ymgme.2014.11.016. Epub 2014 Dec 4. Review.

15.

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.

16.

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

Shaughnessy DT, McAllister K, Worth L, Haugen AC, Meyer JN, Domann FE, Van Houten B, Mostoslavsky R, Bultman SJ, Baccarelli AA, Begley TJ, Sobol RW, Hirschey MD, Ideker T, Santos JH, Copeland WC, Tice RR, Balshaw DM, Tyson FL.

Environ Health Perspect. 2014 Dec;122(12):1271-8. doi: 10.1289/ehp.1408418. Epub 2014 Aug 15. Review.

17.

Defects of mitochondrial DNA replication.

Copeland WC.

J Child Neurol. 2014 Sep;29(9):1216-24. doi: 10.1177/0883073814537380. Epub 2014 Jun 30. Review.

18.

Mitochondrial genome maintenance in health and disease.

Copeland WC, Longley MJ.

DNA Repair (Amst). 2014 Jul;19:190-8. doi: 10.1016/j.dnarep.2014.03.010. Epub 2014 Apr 26. Review.

19.
20.

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.

21.

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

Kasiviswanathan R, Minko IG, Lloyd RS, Copeland WC.

J Biol Chem. 2013 May 17;288(20):14247-55. doi: 10.1074/jbc.M113.458802. Epub 2013 Mar 30.

22.

Alpers-Huttenlocher syndrome.

Saneto RP, Cohen BH, Copeland WC, Naviaux RK.

Pediatr Neurol. 2013 Mar;48(3):167-78. doi: 10.1016/j.pediatrneurol.2012.09.014. Review.

23.

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.

24.

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

Humble MM, Young MJ, Foley JF, Pandiri AR, Travlos GS, Copeland WC.

Hum Mol Genet. 2013 Mar 1;22(5):1017-25. doi: 10.1093/hmg/dds506. Epub 2012 Nov 29.

25.

Balancing antiviral potency and host toxicity: identifying a nucleotide inhibitor with an optimal kinetic phenotype for HIV-1 reverse transcriptase.

Sohl CD, Kasiviswanathan R, Kim J, Pradere U, Schinazi RF, Copeland WC, Mitsuya H, Baba M, Anderson KS.

Mol Pharmacol. 2012 Jul;82(1):125-33. doi: 10.1124/mol.112.078758. Epub 2012 Apr 18.

26.

RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity.

Croteau DL, Rossi ML, Canugovi C, Tian J, Sykora P, Ramamoorthy M, Wang ZM, Singh DK, Akbari M, Kasiviswanathan R, Copeland WC, Bohr VA.

Aging Cell. 2012 Jun;11(3):456-66. doi: 10.1111/j.1474-9726.2012.00803.x. Epub 2012 Mar 2.

27.

A novel POLG gene mutation in a patient with SANDO.

Kurt B, Naini AB, Copeland WC, Lu J, Dimauro S, Hirano M.

J Exp Integr Med. 2012;2(2). doi: 10.5455/jeim.200312.cr.001.

28.

The interface of transcription and DNA replication in the mitochondria.

Kasiviswanathan R, Collins TR, Copeland WC.

Biochim Biophys Acta. 2012 Sep-Oct;1819(9-10):970-8. doi: 10.1016/j.bbagrm.2011.12.005. Epub 2011 Dec 20. Review.

29.

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

Kasiviswanathan R, Gustafson MA, Copeland WC, Meyer JN.

J Biol Chem. 2012 Mar 16;287(12):9222-9. doi: 10.1074/jbc.M111.306852. Epub 2011 Dec 21.

30.

Defects in mitochondrial DNA replication and human disease.

Copeland WC.

Crit Rev Biochem Mol Biol. 2012 Jan-Feb;47(1):64-74. doi: 10.3109/10409238.2011.632763. Review.

31.

Mechanism of interaction of human mitochondrial DNA polymerase γ with the novel nucleoside reverse transcriptase inhibitor 4'-ethynyl-2-fluoro-2'-deoxyadenosine indicates a low potential for host toxicity.

Sohl CD, Singh K, Kasiviswanathan R, Copeland WC, Mitsuya H, Sarafianos SG, Anderson KS.

Antimicrob Agents Chemother. 2012 Mar;56(3):1630-4. doi: 10.1128/AAC.05729-11. Epub 2011 Dec 12.

32.

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

Craig K, Young MJ, Blakely EL, Longley MJ, Turnbull DM, Copeland WC, Taylor RW.

Mitochondrion. 2012 Mar;12(2):313-9. doi: 10.1016/j.mito.2011.11.006. Epub 2011 Dec 4.

33.

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

Kasiviswanathan R, Copeland WC.

Mitochondrion. 2011 Nov;11(6):929-34. doi: 10.1016/j.mito.2011.08.003. Epub 2011 Aug 11.

34.

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

Kasiviswanathan R, Copeland WC.

J Biol Chem. 2011 Sep 9;286(36):31490-500. doi: 10.1074/jbc.M111.252460. Epub 2011 Jul 21.

35.

Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

Young MJ, Longley MJ, Li FY, Kasiviswanathan R, Wong LJ, Copeland WC.

Hum Mol Genet. 2011 Aug 1;20(15):3052-66. doi: 10.1093/hmg/ddr209. Epub 2011 May 9.

36.

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.

37.

Understanding heterogeneous diseases in mtDNA maintenance.

Copeland WC.

Methods. 2010 Aug;51(4):363. doi: 10.1016/j.ymeth.2010.07.008. No abstract available.

PMID:
20682411
38.

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

Longley MJ, Humble MM, Sharief FS, Copeland WC.

J Biol Chem. 2010 Sep 24;285(39):29690-702. doi: 10.1074/jbc.M110.151795. Epub 2010 Jul 20.

39.

Meeting report: Identification of biomarkers for early detection of mitochondrial dysfunction.

Shaughnessy DT, Worth L Jr, Lawler CP, McAllister KA, Longley MJ, Copeland WC.

Mitochondrion. 2010 Aug;10(5):579-81. doi: 10.1016/j.mito.2010.02.001. Epub 2010 Mar 1. No abstract available.

PMID:
20197119
40.

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.

41.

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.

42.

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S.

Arch Neurol. 2010 Feb;67(2):239-44. doi: 10.1001/archneurol.2009.332.

43.

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.

44.

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;15(2):445-56. doi: 10.1111/j.1582-4934.2009.00819.x.

45.

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

Longley MJ, Smith LA, Copeland WC.

Methods Mol Biol. 2009;554:73-85. doi: 10.1007/978-1-59745-521-3_5.

46.

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.

47.

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

Chan SS, Naviaux RK, Basinger AA, Casas KA, Copeland WC.

Mitochondrion. 2009 Sep;9(5):340-5. doi: 10.1016/j.mito.2009.05.002. Epub 2009 Jun 6.

48.

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.

49.

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

Bailey CM, Kasiviswanathan R, Copeland WC, Anderson KS.

Antimicrob Agents Chemother. 2009 Jun;53(6):2610-2. doi: 10.1128/AAC.01659-08. Epub 2009 Apr 13.

50.

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

Stuart GR, Copeland WC, Strand MK.

Nucleic Acids Res. 2009 Apr;37(7):e54. doi: 10.1093/nar/gkp140. Epub 2009 Mar 9.

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