Works by Copeland, William C.

Results: 41

RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity.

Published in:

Aging Cell, 2012, v. 11, n. 3, p. 456, doi. 10.1111/j.1474-9726.2012.00803.x

By:

Croteau, Deborah L.;
Rossi, Marie L.;
Canugovi, Chandrika;
Tian, Jane;
Sykora, Peter;
Ramamoorthy, Mahesh;
Wang, ZhengMing;
Singh, Dharmendra Kumar;
Akbari, Mansour;
Kasiviswanathan, Rajesh;
Copeland, William C.;
Bohr, Vilhelm A.

Publication type:

Article

Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion.

Published in:

2021

By:

Kurtz, Justin;
Fernandes Jr, Joseph Americo;
Mansukhani, Mahesh;
Copeland, William C.;
Naini, Ali B.

Publication type:

Case Study

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

Published in:

Nucleic Acids Research, 2009, v. 37, n. 7, p. e54, doi. 10.1093/nar/gkp140

By:

Stuart, Gregory R.;
Copeland, William C.;
Strand, Micheline K.

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2009, v. 37, n. 6, p. 1868, doi. 10.1093/nar/gkp035

By:

Prasad, Rajendra;
Longley, Matthew J.;
Sharief, Farida S.;
Hou, Esther W.;
Copeland, William C.;
Wilson, Samuel H.

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2005, v. 33, n. 14, p. 4660, doi. 10.1093/nar/gki759

By:

Harrison, Jason F.;
Hollensworth, Scott B.;
Spitz, Douglas R.;
Copeland, William C.;
Wilson, Glenn L.;
LeDoux, Susan P.

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2004, v. 32, n. 1, p. 397, doi. 10.1093/nar/gkh213

By:

Graziewicz, Maria A.;
Sayer, Jane M.;
Jerina, Donald M.;
Copeland, William C.

Publication type:

Article

The mitochondrial DNA polymerase as a target of oxidative damage.

Published in:

Nucleic Acids Research, 2002, v. 30, n. 13, p. 2817, doi. 10.1093/nar/gkf392

By:

Graziewicz, Maria A.;
Day, Brian J.;
Copeland, William C.

Publication type:

Article

Defects of Mitochondrial DNA Replication.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 9, p. 1216, doi. 10.1177/0883073814537380

By:

Copeland, William C.

Publication type:

Article

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.

Published in:

Annals of Neurology, 2023, v. 94, n. 4, p. 696, doi. 10.1002/ana.26716

By:

McCormick, Elizabeth M.;
Keller, Kierstin;
Taylor, Julie P.;
Coffey, Alison J.;
Shen, Lishuang;
Krotoski, Danuta;
Harding, Brian;
Alves, César Augusto Pinheiro Ferreira;
Ardissone, Anna;
Bai, Renkui;
de Barcelos, Isabella Peixoto;
Bertini, Enrico;
Bluske, Krista;
Christodoulou, John;
Clause, Amanda R.;
Copeland, William C.;
Diaz, George A.;
Diodato, Daria;
Dulik, Matthew C.;
Enns, Greg

Publication type:

Article

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

Published in:

Nature Structural & Molecular Biology, 2004, v. 11, n. 8, p. 770, doi. 10.1038/nsmb805

By:

Graziewicz, Maria A.;
Longley, Matthew J.;
Bienstock, Rachelle J.;
Zeviani, Massimo;
Copeland, William C.

Publication type:

Article

Recent insights into the structure and function of coronavirus ribonucleases.

Published in:

FEBS Open Bio, 2022, v. 12, n. 9, p. 1567, doi. 10.1002/2211-5463.13414

By:

Frazier, Meredith N.;
Riccio, Amanda A.;
Wilson, Isha M.;
Copeland, William C.;
Stanley, Robin E.

Publication type:

Article

Mitochondria, Energetics, Epigenetics, and Cellular Responses to Stress.

Published in:

Environmental Health Perspectives, 2014, v. 122, n. 12, p. 1271, doi. 10.1289/ehp.1408418

By:

Shaughnessy, Daniel T.;
McAllister, Kimberly;
Worth, Leroy;
Haugen, Astrid C.;
Meyer, Joel N.;
Domann, Frederick E.;
Van Houten, Bennett;
Mostoslavsky, Raul;
Bultman, Scott J.;
Baccarelli, Andrea A.;
Begley, Thomas J.;
Sobol, Robert W.;
Hirschey, Matthew D.;
Ideker, Trey;
Santos, Janine H.;
Copeland, William C.;
Tice, Raymond R.;
Balshaw, David M.;
Tyson, Frederick L.

Publication type:

Article

Mitochondrial DNA alterations in cancer.

Published in:

2002

By:

Copeland, William C.;
Wachsman, Joseph T.;
Johnson, F. M.;
Penta, John S.

Publication type:

journal article

The Exonuclease Activity of the Yeast Mitochondrial DNA Polymerase γ Suppresses Mitochondrial DNA Deletions Between Short Direct Repeats in Saccharomyces cerevisiae.

Published in:

Genetics, 2013, v. 194, n. 2, p. 519, doi. 10.1534/genetics.113.150920

By:

Stumpf, Jeffrey D.;
Copeland, William C.

Publication type:

Article

A novel POLG gene mutation in a patient with SANDO.

Published in:

Journal of Experimental & Integrative Medicine, 2012, v. 2, n. 2, p. 181, doi. 10.5455/jeim.200312.cr.001

By:

Kurt, Bulent;
Naini, Ali B.;
Copeland, William C.;
Jiesheng Lu;
DiMauro, Salvatore;
Hirano, Michio

Publication type:

Article

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

Published in:

PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0203198

By:

Hoff, Kirsten E.;
DeBalsi, Karen L.;
Sanchez-Quintero, Maria J.;
Longley, Matthew J.;
Hirano, Michio;
Naini, Ali B.;
Copeland, William C.

Publication type:

Article

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

Published in:

Nature Reviews Drug Discovery, 2003, v. 2, n. 10, p. 812, doi. 10.1038/nrd1201

By:

Lewis, William;
Day, Brian J.;
Copeland, William C.

Publication type:

Article

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

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 1, p. 4, doi. 10.1002/acn3.361

By:

Van Maldergem, Lionel;
Besse, Arnaud;
De Paepe, Boel;
Blakely, Emma L.;
Appadurai, Vivek;
Humble, Margaret M.;
Piard, Juliette;
Craig, Kate;
He, Langping;
Hella, Pierre;
Debray, François‐Guillaume;
Martin, Jean‐Jacques;
Gaussen, Marion;
Laloux, Patrice;
Stevanin, Giovanni;
Van Coster, Rudy;
Taylor, Robert W.;
Copeland, William C.;
Mormont, Eric;
Bonnen, Penelope E.

Publication type:

Article

Automated systematic evaluation of cryo-EM specimens with SmartScope.

Published in:

2022

By:

Bouvette, Jonathan;
Qinwen Huang;
Riccio, Amanda A.;
Copeland, William C.;
Bartesaghi, Alberto;
Borgnia, Mario J.

Publication type:

Product Review

Mitochondrial DNA Polymerase γ is Expressed and Translated in the Absence of Mitochondrial DNA Maintenance and Replication.

Published in:

Nucleic Acids Research, 1996, v. 24, n. 14, p. 2753, doi. 10.1093/nar/24.14.2753

By:

Davis, Alison F.;
Ropp, Philip A.;
Clayton, David A.;
Copeland, William C.

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2018, v. 46, n. 21, p. 11287, doi. 10.1093/nar/gky875

By:

Kaur, Parminder;
Longley, Matthew J;
Pan, Hai;
Wang, Hong;
Copeland, William C

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2017, v. 45, n. 17, p. 10079, doi. 10.1093/nar/gkx654

By:

Çaglayan, Melike;
Prasad, Rajendra;
Krasich, Rachel;
Longley, Matthew J.;
Kei Kadoda;
Masataka Tsuda;
Hiroyuki Sasanuma;
Shunichi Takeda;
Keizo Tano;
Copeland, William C.;
Wilson, Samuel H.

Publication type:

Article

Mutational Analysis of the Mitochondrial tRNA Genes and Flanking Regions in Umbilical Cord Tissue from Uninfected Infants Receiving AZT-Based Therapies for Prophylaxis of HIV-1.

Published in:

Environmental & Molecular Mutagenesis, 2009, v. 50, n. 1, p. 10, doi. 10.1002/em.20433

By:

Torres, Sauna M.;
Walker, Dale M.;
McCash, Consuelo L.;
Carter, Meghan M.;
Ming, Jessica;
Cordova, Edmund M.;
Pons, Rachel M.;
Cook Jr., Dennis L.;
Seilkop, Steven K.;
Copeland, William C.;
Walkerl, Vernon E.

Publication type:

Article

Mitochondrial toxicity in hearts of CD‐1 mice following perinatal exposure to AZT, 3TC, or AZT/3TC in combinationThis article is a US Government work and, as such, is in the public domain in the United States of America.Invited article on the genotoxicity of perinatal NRTI therapy.

Published in:

Environmental & Molecular Mutagenesis, 2007, v. 48, n. 3/4, p. 190, doi. 10.1002/em.20191

By:

Sherine S.L. Chan;
Janine H. Santos;
Joel N. Meyer;
Bhaskar S. Mandavilli;
Dennis L. Cook;
Consuelo L. McCash;
Grace E. Kissling;
Abraham Nyska;
Julie F. Foley;
Bennett van Houten;
William C. Copeland;
Vernon E. Walker;
Kristine L. Witt;
Jack B. Bishop

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5184, doi. 10.1093/hmg/ddv240

By:

Young, Matthew J.;
Humble, Margaret M.;
DeBalsi, Karen L.;
Sun, Kathie Y.;
Copeland, William C.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1074, doi. 10.1093/hmg/dds509

By:

Sohl, Christal D.;
Kasiviswanathan, Rajesh;
Copeland, William C.;
Anderson, Karen S.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 1017, doi. 10.1093/hmg/dds506

By:

Humble, Margaret M.;
Young, Matthew J.;
Foley, Julie F.;
Pandiri, Arun R.;
Travlos, Greg S.;
Copeland, William C.

Publication type:

Article

Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 3052, doi. 10.1093/hmg/ddr209

By:

Young, Matthew J.;
Longley, Matthew J.;
Li, Fang-Yuan;
Kasiviswanathan, Rajesh;
Wong, Lee-Jun;
Copeland, William C.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2010, v. 19, n. 11, p. 2123, doi. 10.1093/hmg/ddq089

By:

Stumpf, Jeffrey D.;
Bailey, Christopher M.;
Spell, Diana;
Stillwagon, Matthew;
Anderson, Karen S.;
Copeland, William C.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2729, doi. 10.1093/hmg/ddm227

By:

Graziewicz, Maria A.;
Bienstock, Rachelle J.;
Copeland, William C.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2006, v. 15, n. 23, p. 3473, doi. 10.1093/hmg/ddl424

By:

Chan, Sherine S.L.;
Longley, Matthew J.;
Copeland, William C.

Publication type:

Article

Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.

Published in:

Genome Biology, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s13059-020-02138-5

By:

Lujan, Scott A.;
Longley, Matthew J.;
Humble, Margaret H.;
Lavender, Christopher A.;
Burkholder, Adam;
Blakely, Emma L.;
Alston, Charlotte L.;
Gorman, Grainne S.;
Turnbull, Doug M.;
McFarland, Robert;
Taylor, Robert W.;
Kunkel, Thomas A.;
Copeland, William C.

Publication type:

Article

MMS Exposure Promotes Increased MtDNA Mutagenesis in the Presence of Replication-Defective Disease-Associated DNA Polymerase γ Variants.

Published in:

PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004748

By:

Stumpf, Jeffrey D.;
Copeland, William C.

Publication type:

Article

SmartScope: Framework for Autonomous Cryo-EM Imaging.

Published in:

2022

By:

Bouvette, Jonathan;
Huang, Qinwen;
Riccio, Amanda A.;
Copeland, William C.;
Bartesaghi, Alberto;
Borgnia, Mario J.

Publication type:

Abstract

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

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 363, doi. 10.1093/hmg/ddi454

By:

Stuart, Gregory R.;
Santos, Janine H.;
Strand, Micheline K.;
Van Houten, Bennett;
Copeland, William C.

Publication type:

Article

Reduction in frataxin causes progressive accumulation of mitochondrial damage.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3331, doi. 10.1093/hmg/ddg349

By:

Karthikeyan, Gopalakrishnan;
Santos, Janine H.;
Graziewicz, Maria A.;
Copeland, William C.;
Isaya, Grazia;
Houten, Bennett Van;
Resnick, Michael A.

Publication type:

Article

Structures of the mitochondrial single-stranded DNA binding protein with DNA and DNA polymerase γ.

Published in:

Nucleic Acids Research, 2024, v. 52, n. 17, p. 10329, doi. 10.1093/nar/gkae670

By:

Riccio, Amanda A;
Bouvette, Jonathan;
Pedersen, Lars C;
Somai, Shruti;
Dutcher, Robert C;
Borgnia, Mario J;
Copeland, William C

Publication type:

Article

Coordinated DNA polymerization by Polγ and the region of LonP1 regulated proteolysis.

Published in:

Nucleic Acids Research, 2024, v. 52, n. 13, p. 7863, doi. 10.1093/nar/gkae539

By:

Riccio, Amanda A;
Brannon, Asia J;
Krahn, Juno M;
Bouvette, Jonathan;
Williams, Jason G;
Borgnia, Mario J;
Copeland, William C

Publication type:

Article

Structure-specific roles for PolG2–DNA complexes in maintenance and replication of mitochondrial DNA.

Published in:

Nucleic Acids Research, 2023, v. 51, n. 18, p. 9716, doi. 10.1093/nar/gkad679

By:

Wojtaszek, Jessica L;
Hoff, Kirsten E;
Longley, Matthew J;
Kaur, Parminder;
Andres, Sara N;
Wang, Hong;
Williams, R Scott;
Copeland, William C

Publication type:

Article

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.

Published in:

PLoS ONE, 2019, v. 14, n. 9, p. 1, doi. 10.1371/journal.pone.0221829

By:

Gustafson, Margaret A.;
McCormick, Elizabeth M.;
Perera, Lalith;
Longley, Matthew J.;
Bai, Renkui;
Kong, Jianping;
Dulik, Matthew;
Shen, Lishuang;
Goldstein, Amy C.;
McCormack, Shana E.;
Laskin, Benjamin L.;
Leroy, Bart P.;
Ortiz-Gonzalez, Xilma R.;
Ellington, Meredith G.;
Copeland, William C.;
Falk, Marni J.

Publication type:

Article

Defects in mitochondrial DNA replication and human disease.

Published in:

Critical Reviews in Biochemistry & Molecular Biology, 2012, v. 47, n. 1, p. 64, doi. 10.3109/10409238.2011.632763

By:

Copeland, William C.

Publication type:

Article