Lista de obras - William C Copeland - Dominio Público Uruguay

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

artículo científico publicado en 2011

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

scientific article published on 01 February 1995

Alpers-Huttenlocher syndrome

artículo científico publicado en 2013

Analysis of Translesion DNA Synthesis by the Mitochondrial DNA Polymerase γ

artículo científico publicado en 2016

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

artículo científico publicado en 2006

Automated systematic evaluation of cryo-EM specimens with SmartScope

artículo científico publicado en 2022

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

artículo científico publicado en 2012

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

artículo científico publicado en 2002

Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

artículo científico publicado en 2011

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

artículo científico publicado en 1995

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

artículo científico publicado en 2018

Clinical and molecular features of POLG-related mitochondrial disease.

artículo científico publicado en 2013

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

artículo científico publicado en 1996

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

artículo científico publicado en 2017

Consequences of mutations in human DNA polymerase gamma.

artículo científico publicado en 2005

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

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

Defects of mitochondrial DNA replication.

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Eukaryotic DNA polymerases: proposal for a revised nomenclature.

artículo científico publicado en 2001

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.

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

Human mitochondrial DNA replication machinery and disease

artículo científico publicado en 2016

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

artículo científico publicado en 2008

Long patch base excision repair in mammalian mitochondrial genomes

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Mitochondria, energetics, epigenetics, and cellular responses to stress

artículo científico publicado en 2014

Mitochondrial DNA alterations in cancer.

artículo científico publicado en 2002

Mitochondrial DNA in human malignancy.

artículo científico publicado en 2001

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

artículo científico publicado en 1996

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Mitochondrial genome maintenance in health and disease.

artículo científico publicado en 2014

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.

artículo científico publicado en 2007

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

artículo científico publicado el 1 de octubre de 2003

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

artículo científico publicado en 2006

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

artículo científico publicado en 2008

Molecular diagnosis of Alpers syndrome.

artículo científico publicado en 2006

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

artículo científico publicado en 2005

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

artículo científico publicado en 2006

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

artículo científico publicado en 2004

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico

Reduction in frataxin causes progressive accumulation of mitochondrial damage.

artículo científico publicado en 2003

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

artículo científico publicado en 2020

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

artículo científico publicado en 1993

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.

artículo científico publicado en 2003

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2011

The mitochondrial DNA polymerase in health and disease.

artículo científico publicado en 2010

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

artículo científico publicado en 1999

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

artículo científico publicado en 1989

Transcriptional response to mitochondrial NADH kinase deficiency in Saccharomyces cerevisiae.

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

scientific article published on 17 September 2020

Understanding heterogeneous diseases in mtDNA maintenance.

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Lista de obras de 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 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 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

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

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.

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

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

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

The interface of transcription and DNA replication in the mitochondria