M. Longley

发表

Hypermutability and mismatch repair deficiency in RER+ tumor cells

Bert Vogelstein, Kenneth W. Kinzler, Paul Modrich, 1993, Cell.

Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

L. Wong, R. Kasiviswanathan, W. Copeland, 2011, Human molecular genetics.

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

W. Copeland, M. Longley, Susan E. Lim, 2003, Journal of molecular biology.

Diverse hypermutability of multiple expressed sequence motifs present in a cancer with microsatellite instability.

J. Eshleman, J. Lutterbaugh, S. Markowitz, 1996, Oncogene.

The Common A467T Mutation in the Human Mitochondrial DNA Polymerase (POLG) Compromises Catalytic Efficiency and Interaction with the Accessory Subunit*

W. Copeland, M. Longley, S. Chan, 2005, Journal of Biological Chemistry.

DNA polymerase delta is required for human mismatch repair in vitro.

P. Modrich, A. Pierce, M. Longley, 1997, The Journal of biological chemistry.

Disease Variants of the Human Mitochondrial DNA Helicase Encoded by C10orf2 Differentially Alter Protein Stability, Nucleotide Hydrolysis, and Helicase Activity*♦

W. Copeland, M. Longley, F. Sharief, 2010, The Journal of Biological Chemistry.

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

W. Copeland, M. Longley, Leslie A. Smith, 2009, Methods in molecular biology.

Disease Mutations in the Human Mitochondrial DNA Polymerase Thumb Subdomain Impart Severe Defects in Mitochondrial DNA Replication*

R. Kasiviswanathan, W. Copeland, M. Longley, 2009, The Journal of Biological Chemistry.

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

W. Copeland, M. Longley, S. Chan, 2006 .

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

W. Copeland, M. Longley, S. Chan, 2006, Human molecular genetics.

Characterization of the 5' to 3' exonuclease associated with Thermus aquaticus DNA polymerase.

S. Bennett, M. Longley, D. W. Mosbaugh, 1990, Nucleic acids research.

Method for the structural analysis of Twinkle mitochondrial DNA helicase by cryo-EM.

M. Borgnia, J. Krahn, W. Copeland, 2022, Methods.

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

Robert W. Taylor, Christopher A. Lavender, T. Kunkel, 2020, Genome Biology.

Nucleotide sequence of the human placental alkaline phosphatase gene. Evolution of the 5' flanking region by deletion/substitution.

K. Rothblum, M. Longley, B. Knoll, 1988, The Journal of biological chemistry.

Consequences of mutations in human DNA polymerase gamma.

W. Copeland, R. Bienstock, M. Longley, 2005, Gene.

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

S. Dimauro, R. Kardon, M. Mancuso, 2008, Archives of neurology.

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

Robert W. Taylor, D. Turnbull, P. Chinnery, 2006, American journal of human genetics.

Characterization of DNA metabolizing enzymes in situ following polyacrylamide gel electrophoresis.

M. Longley, D. W. Mosbaugh, 1991, Biochemistry.

Properties of the 3' to 5' exonuclease associated with porcine liver DNA polymerase gamma. Substrate specificity, product analysis, inhibition, and kinetics of terminal excision.

M. Longley, D. W. Mosbaugh, 1991, The Journal of biological chemistry.

Characterization of the native and recombinant catalytic subunit of human DNA polymerase gamma: identification of residues critical for exonuclease activity and dideoxynucleotide sensitivity.

W. Copeland, M. Longley, S. Lim, 1998, Biochemistry.

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

R. Kasiviswanathan, W. Copeland, M. Longley, 2016, Methods in molecular biology.

Mismatch repair and genetic stability in human cells.

W. Thilly, P. Modrich, M. Longley, 1993, Cold Spring Harbor symposia on quantitative biology.

DNA Polymerase (cid:100) Is Required for Human Mismatch Repair in Vitro *

Paul Modrich, Andrew J. Pierce, P. Modrich, 2022 .

Long Patch Base Excision Repair in Mammalian Mitochondrial Genomes*

S. Mitra, B. Szczesny, W. Copeland, 2008, Journal of Biological Chemistry.

Two gene duplication events in the evolution of the human heat-stable alkaline phosphatases.

K. Rothblum, M. Longley, B. Knoll, 1987, Gene.

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

Samuel H. Wilson, R. Prasad, E. Hou, 2009, Nucleic acids research.

Identification of 5'-deoxyribose phosphate lyase activity in human DNA polymerase gamma and its role in mitochondrial base excision repair in vitro.

Samuel H. Wilson, S. H. Wilson, R. Prasad, 1998, Proceedings of the National Academy of Sciences of the United States of America.

In situ detection of DNA-metabolizing enzymes following polyacrylamide gel electrophoresis.

M. Longley, D. W. Mosbaugh, 1993, Methods in enzymology.

POS5 Gene of Saccharomyces cerevisiae Encodes a Mitochondrial NADH Kinase Required for Stability of Mitochondrial DNA

G. R. Stuart, Micheline K. Strand, W. Copeland, 2003, Eukaryotic Cell.

The Fidelity of Human DNA Polymerase γ with and without Exonucleolytic Proofreading and the p55 Accessory Subunit*

T. Kunkel, W. Copeland, M. Longley, 2001, The Journal of Biological Chemistry.

DNA polymerase gamma in mitochondrial DNA replication and repair.

W. Copeland, M. Longley, M. Graziewicz, 2006, Chemical reviews.

Purification, separation, and identification of the human mtDNA polymerase with and without its accessory subunit.

W. Copeland, M. Longley, 2002, Methods in molecular biology.

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

T. Kunkel, Z. Pursell, C. Mathews, 2005, Proceedings of the National Academy of Sciences of the United States of America.

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

Robert W. Taylor, Christopher A. Lavender, T. Kunkel, 2020, Genome biology.

DNA Polymerase Gamma in Mitochondrial DNA Replication and Repair

W. Copeland, M. Longley, 2003, TheScientificWorldJournal.

An alkylation-tolerant, mutator human cell line is deficient in strand-specific mismatch repair.

W. Thilly, W. Fang, P. Modrich, 1993, Proceedings of the National Academy of Sciences of the United States of America.

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

Samuel H. Wilson, J. Griffith, J. Horton, 2017, DNA repair.

Mitochondrial genome maintenance in health and disease.

W. Copeland, M. Longley, 2014, DNA repair.

Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders.

T. Kunkel, W. Copeland, M. Longley, 2003, Acta biochimica Polonica.

Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells.

P. Modrich, Guo-Min Li, P Modrich, 1995, Science.

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

W. Copeland, Eric D. Sullivan, M. Longley, 2020, The Journal of biological chemistry.

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

Nidhi Sharma, S. Chakravarthy, W. Copeland, 2018, DNA repair.

Mismatch repair deficiency in phenotypically normal human cells

K. Kinzler, B. Vogelstein, R. Parsons, 1995, Science.

Active Site Mutation in DNA Polymerase γ Associated with Progressive External Ophthalmoplegia Causes Error-prone DNA Synthesis*

T. Kunkel, W. Copeland, M. Longley, 2002, The Journal of Biological Chemistry.

The Mitochondrial p55 Accessory Subunit of Human DNA Polymerase γ Enhances DNA Binding, Promotes Processive DNA Synthesis, and Confers N-Ethylmaleimide Resistance*

W. Copeland, M. Longley, Susan E. Lim, 1999, The Journal of Biological Chemistry.

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

R. Naviaux, W. Copeland, M. Longley, 2005, DNA repair.

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

Robert W. Taylor, D. Turnbull, W. Copeland, 2012, Mitochondrion.

Consequences of mutations in human DNA polymerase γ

W. Copeland, R. Bienstock, M. Longley, 2005 .

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

M. Zeviani, W. Copeland, R. Bienstock, 2004, Nature Structural &Molecular Biology.

Polymerase g efficiently replicates through many natural template barriers but stalls at the HSP 1 quadruplex

W. Copeland, Eric D. Sullivan, M. Longley, 2020 .

Structural insight and characterization of human Twinkle helicase in mitochondrial disease

M. Borgnia, L. Perera, J. Krahn, 2022, Proceedings of the National Academy of Sciences of the United States of America.

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

K. DeBalsi, W. Copeland, M. Longley, 2017, The Journal of Biological Chemistry.

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

M. Hirano, K. DeBalsi, W. Copeland, 2018, PloS one.

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

Hong Wang, W. Copeland, M. Longley, 2018, Nucleic acids research.

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

Wendy Wang, Hong Wang, W. Copeland, 2020, The Journal of Biological Chemistry.

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

Samuel H. Wilson, R. Prasad, H. Sasanuma, 2017, Nucleic Acids Research.

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

R. Kasiviswanathan, W. Copeland, M. Longley, 2010, Methods.

AJHG MS 43461 revised v 3 Mutant POLG 2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia

D. Turnbull, P. Chinnery, G. Hudson, 2008 .

Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia

Robert W. Taylor, D. Turnbull, P. Chinnery, 2006 .

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

W. Copeland, M. Longley, S. Chan, 2007 .

DNA2 resolves expanding flap in mitochondrial base excision repair.

W. Copeland, M. Longley, 2008, Molecular cell.

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

Marni J. Falk, Lishuang Shen, L. Perera, 2019, PloS one.

DNA Polymerase γ in Mitochondrial DNA Replication and Repair

W. Copeland, M. Longley, M. Graziewicz, 2006 .

92 Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mtDNA replication

R. Kasiviswanathan, W. Copeland, M. Longley, 2010 .

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

Wendy Wang, Hong Wang, W. Copeland, 2020, Journal of Biological Chemistry.

DNA polymerase delta is required for human mismatch repair in vitro.

P. Modrich, A. Pierce, M. Longley, 1997, The Journal of biological chemistry.

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

C. Lawler, W. Copeland, M. Longley, 2010, Mitochondrion (Amsterdam. Print).

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

Samuel H. Wilson, R. Prasad, H. Sasanuma, 2017, Nucleic acids research.

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

J. Wojtaszek, Hong Wang, W. Copeland, 2023, Nucleic acids research.