List of works - William C Copeland

Alpers-Huttenlocher syndrome

scientific article

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

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

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

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

scientific article published on 01 February 1995

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

scientific article

POLG-related disorders and their neurological manifestations

scientific article published on 01 January 2019

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

scientific journal article

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

scientific article published on August 11, 2011

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

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

scientific article published on 30 March 2013

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

scientific article

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

scientific article published in December 1989

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

Preparation of human mitochondrial single-stranded DNA-binding protein

scientific article

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

scientific article

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

scientific article (publication date: October 2014)

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

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

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

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

scientific article published on 09 March 2009

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

scientific article published on 28 October 2017

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

scientific article published on 01 March 2010

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

scientific article published in June 2002

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

scientific article published on 2 February 2017

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

scientific article published on 06 June 2009

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

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

scientific article published on January 1995

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

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

scientific article published on 02 September 2016

Understanding heterogeneous diseases in mtDNA maintenance.

scientific article

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

scientific article

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

scientific article published on 01 January 2020

Analysis of Translesion DNA Synthesis by the Mitochondrial DNA Polymerase γ

scientific article

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

scientific article

Transcriptional response to mitochondrial NADH kinase deficiency in Saccharomyces cerevisiae.

scientific article published on 28 February 2009

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

scientific article published on September 2017

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

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

scientific article published on 19 October 2020

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

scientific article published in PLoS ONE

Automated systematic evaluation of cryo-EM specimens with SmartScope

scientific article published in 2022

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

scientific article published on 25 March 2020

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

scientific article published on 17 September 2020

List of works by William C Copeland

Alpers-Huttenlocher syndrome

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

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

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.

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

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

POLG-related disorders and their neurological manifestations

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

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

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

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

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

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

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

Preparation of human mitochondrial single-stranded DNA-binding protein

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Understanding heterogeneous diseases in mtDNA maintenance.

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

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Analysis of Translesion DNA Synthesis by the Mitochondrial DNA Polymerase γ

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

Transcriptional response to mitochondrial NADH kinase deficiency in Saccharomyces cerevisiae.

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

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

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

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

Automated systematic evaluation of cryo-EM specimens with SmartScope

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

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