List of works - William C Copeland

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

scientific article published on 04 December 2011

Active site mapping of the catalytic mouse primase subunit by alanine scanning mutagenesis

scientific article published on 01 February 1995

Alpers-Huttenlocher syndrome

scientific article

Analysis of Translesion DNA Synthesis by the Mitochondrial DNA Polymerase γ

scientific article

Antiretroviral nucleosides, deoxynucleotide carrier and mitochondrial DNA: evidence supporting the DNA pol gamma hypothesis.

scientific article published on March 2006

Automated systematic evaluation of cryo-EM specimens with SmartScope

scientific article published in 2022

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

scientific article

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

scientific article published in June 2002

Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

scientific article

Characterization of a new DNA polymerase from Schizosaccharomyces pombe: a probable homologue of the Saccharomyces cerevisiae DNA polymerase gamma.

scientific article published on November 1995

Characterization of the Native and Recombinant Catalytic Subunit of Human DNA Polymerase γ: Identification of Residues Critical for Exonuclease Activity and Dideoxynucleotide Sensitivity ⬇️

scientific article published on July 21, 1998

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

scientific article published in PLoS ONE

Clinical and molecular features of POLG-related mitochondrial disease.

scientific article published on April 2013

Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma

scientific article

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

scientific article published on September 2017

Consequences of mutations in human DNA polymerase gamma.

scientific article

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

scientific article published on 09 March 2009

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

scientific article published on 29 October 2008

DNA polymerase gamma in mitochondrial DNA replication and repair

scientific article published on 17 March 2003

DNA polymerase gamma in mitochondrial DNA replication and repair.

scientific article

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

scientific article published on 28 October 2017

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

scientific article published on 02 September 2016

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

scientific article

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

scientific article published on 06 June 2009

Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma.

scientific article published on 19 February 2006

Defects in mitochondrial DNA replication and human disease ⬇️

scientific article published on January 1, 2012

Defects of mitochondrial DNA replication.

scientific article

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

scientific article

Eukaryotic DNA polymerases: proposal for a revised nomenclature.

scientific article

Expression, purification, and characterization of the two human primase subunits and truncated complexes from Escherichia coli

scientific journal article

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

scientific article

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

scientific article

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

scientific article published on 21 December 2011

Human mitochondrial DNA replication machinery and disease

scientific article published on 08 April 2016

Identification of 5′-deoxyribose phosphate lyase activity in human DNA polymerase γ and its role in mitochondrial base excision repair in vitro ⬇️

scientific article published on October 13, 1998

Immunohistochemical detection of human mtDNA polymerase gamma and of human mitochondrial transcription factor A in cytochrome-c-oxidase-deficient oxyphil cells of hyperfunctional parathyroids

scientific article published on 01 December 1998

In vivo species specificity of DNA polymerase alpha

scientific article published on 01 November 1993

Inherited mitochondrial diseases of DNA replication

scientific article

Long patch base excision repair in mammalian mitochondrial genomes

scientific article published on 17 July 2008

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

scientific article (publication date: October 2014)

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.

scientific article published on 12 December 2011

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

scientific article published on 01 March 2010

Mitochondria, energetics, epigenetics, and cellular responses to stress

scientific article

Mitochondrial DNA alterations in cancer.

scientific article

Mitochondrial DNA in human malignancy.

scientific article

Mitochondrial DNA polymerase gamma is expressed and translated in the absence of mitochondrial DNA maintenance and replication

scientific article

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

scientific article

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

scientific article (publication date: March 2015)

Mitochondrial disease: clinical aspects, molecular mechanisms, translational science, and clinical frontiers.

scientific article

Mitochondrial genome maintenance in health and disease.

scientific 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

scientific article published on 03 September 2019

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

scientific article published in April 2007

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

scientific article published on October 1, 2003

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

scientific article published on 6 November 2006

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

scientific article

Molecular diagnosis of Alpers syndrome.

scientific article published on 20 February 2006

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

scientific article published on 21 September 2005

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

scientific article

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

scientific article published on December 3, 2012

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

scientific article published on 16 January 2004

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

scientific article published on 20 February 2006

POLG-related disorders and their neurological manifestations

scientific article published on 01 January 2019

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

scientific article

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

scientific journal article

Polymerase γ efficiently replicates through many natural template barriers but stalls at the HSP1 quadruplex

scientific article published on 19 October 2020

Preparation of human mitochondrial single-stranded DNA-binding protein

scientific article

Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

scientific article published on January 2008

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

scientific article

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

scientific article published on 13 April 2009

RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity

scientific article

Rationale for mutagenesis of DNA polymerase active sites: DNA polymerase alpha.

scientific article published on January 1995

Reduction in frataxin causes progressive accumulation of mitochondrial damage.

scientific article published on 21 October 2003

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

scientific article

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

scientific article published on 30 April 2016

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

scientific article published on 01 January 2020

Selective action of 4'-azidothymidine triphosphate on reverse transcriptase of human immunodeficiency virus type 1 and human DNA polymerases alpha and beta.

scientific article

Single-molecule level structural dynamics of DNA unwinding by human mitochondrial Twinkle helicase

scientific article published on 25 March 2020

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

scientific article

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

scientific article published on 2 February 2017

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

scientific article published on 6 March 2018

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

scientific article published on April 15, 2013

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

scientific article published on 16 July 2005

The fidelity of human DNA polymerase gamma with and without exonucleolytic proofreading and the p55 accessory subunit

scientific article published on 14 August 2001

The interface of transcription and DNA replication in the mitochondria

scientific article published on 20 December 2011

The mitochondrial DNA polymerase in health and disease.

scientific article published on January 2010

The mitochondrial p55 accessory subunit of human DNA polymerase gamma enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance

scientific article

The molecular cloning, sequence and expression of the hdcB gene from Lactobacillus 30A.

scientific article published in December 1989

Transcriptional response to mitochondrial NADH kinase deficiency in Saccharomyces cerevisiae.

scientific article published on 28 February 2009

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

scientific article published on 30 March 2013

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

scientific article published on 17 September 2020

Understanding heterogeneous diseases in mtDNA maintenance.

scientific article

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

scientific article published on 31 August 2016

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

scientific article

List of works by William C Copeland

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

Active site mapping of the catalytic mouse primase subunit by alanine scanning mutagenesis

Alpers-Huttenlocher syndrome

Analysis of Translesion DNA Synthesis by the Mitochondrial DNA Polymerase γ

Antiretroviral nucleosides, deoxynucleotide carrier and mitochondrial DNA: evidence supporting the DNA pol gamma hypothesis.

Automated systematic evaluation of cryo-EM specimens with SmartScope

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

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

Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

Characterization of a new DNA polymerase from Schizosaccharomyces pombe: a probable homologue of the Saccharomyces cerevisiae DNA polymerase gamma.

Characterization of the Native and Recombinant Catalytic Subunit of Human DNA Polymerase γ: Identification of Residues Critical for Exonuclease Activity and Dideoxynucleotide Sensitivity ⬇️

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

Clinical and molecular features of POLG-related mitochondrial disease.

Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma

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

Consequences of mutations in human DNA polymerase gamma.

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

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

DNA polymerase gamma in mitochondrial DNA replication and repair

DNA polymerase gamma in mitochondrial DNA replication and repair.

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

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

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

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

Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma.

Defects in mitochondrial DNA replication and human disease ⬇️

Defects of mitochondrial DNA replication.

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

Eukaryotic DNA polymerases: proposal for a revised nomenclature.

Expression, purification, and characterization of the two human primase subunits and truncated complexes from Escherichia coli

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

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

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

Human mitochondrial DNA replication machinery and disease

Identification of 5′-deoxyribose phosphate lyase activity in human DNA polymerase γ and its role in mitochondrial base excision repair in vitro ⬇️

Immunohistochemical detection of human mtDNA polymerase gamma and of human mitochondrial transcription factor A in cytochrome-c-oxidase-deficient oxyphil cells of hyperfunctional parathyroids

In vivo species specificity of DNA polymerase alpha

Inherited mitochondrial diseases of DNA replication

Long patch base excision repair in mammalian mitochondrial genomes

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

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.

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

Mitochondria, energetics, epigenetics, and cellular responses to stress

Mitochondrial DNA alterations in cancer.

Mitochondrial DNA in human malignancy.

Mitochondrial DNA polymerase gamma is expressed and translated in the absence of mitochondrial DNA maintenance and replication

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

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

Mitochondrial disease: clinical aspects, molecular mechanisms, translational science, and clinical frontiers.

Mitochondrial genome maintenance in health and disease.

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

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

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

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

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

Molecular diagnosis of Alpers syndrome.

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

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

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

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

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

POLG-related disorders and their neurological manifestations

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

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

Polymerase γ efficiently replicates through many natural template barriers but stalls at the HSP1 quadruplex

Preparation of human mitochondrial single-stranded DNA-binding protein

Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

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

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

RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity

Rationale for mutagenesis of DNA polymerase active sites: DNA polymerase alpha.

Reduction in frataxin causes progressive accumulation of mitochondrial damage.

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

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

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Selective action of 4'-azidothymidine triphosphate on reverse transcriptase of human immunodeficiency virus type 1 and human DNA polymerases alpha and beta.

Single-molecule level structural dynamics of DNA unwinding by human mitochondrial Twinkle helicase

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

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