DNA polymerase γ and disease: what we have learned from yeast

Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae

(2015) Enrico Baruffini et al.   MITOCHONDRION

Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype–phenotype correlations for the complete spectrum of POLG syndromes

(2014) Gregory A. Farnum et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Yeast Cells Expressing the Human Mitochondrial DNA Polymerase Reveal Correlations between Polymerase Fidelity and Human Disease Progression

(2014) Yufeng Qian et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondrial protein sorting as a therapeutic target for ATP synthase disorders

(2014) Raeka S. Aiyar et al.   Nature Communications

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

(2014) Jeffrey D. Stumpf et al.   PLoS Genetics

Role of polymerase η in mitochondrial mutagenesis of Saccharomyces cerevisiae

(2013) Nimrat Chatterjee et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

(2013) J. D. Stumpf et al.   GENETICS

Replicating animal mitochondrial DNA

(2013) Emily A. McKinney et al.   GENETICS AND MOLECULAR BIOLOGY

Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia

(2013) Sara Roos et al.   HUMAN MOLECULAR GENETICS

Biochemical, cellular and molecular identification of DNA polymerase α in yeast mitochondria

(2012) Jean-Paul Lasserre et al.   BIOCHIMIE

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion

(2012) Stefanie Bulst et al.   MOLECULAR GENETICS AND METABOLISM

Overexpression of DNA Polymerase Zeta Reduces the Mitochondrial Mutability Caused by Pathological Mutations in DNA Polymerase Gamma in Yeast

(2012) Enrico Baruffini et al.   PLoS One

C-Terminal Extension of the Yeast Mitochondrial DNA Polymerase Determines the Balance between Synthesis and Degradation

(2012) Katrin Viikov et al.   PLoS One

Effect of the Y955C Mutation on Mitochondrial DNA Polymerase Nucleotide Incorporation Efficiency and Fidelity

(2011) Patricia A. Estep et al.   BIOCHEMISTRY

Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia†

(2011) Neli Atanassova et al.   HUMAN MOLECULAR GENETICS

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ

(2011) Liliya Euro et al.   NUCLEIC ACIDS RESEARCH

Antimutator Alleles of Yeast DNA Polymerase Gamma Modulate the Balance between DNA Synthesis and Excision

(2011) Françoise Foury et al.   PLoS One

A yeast-based assay identifies drugs active against human mitochondrial disorders

(2011) E. Couplan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2010) Jeffrey D. Stumpf et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Association of the yeast DNA helicase Pif1p with mitochondrial membranes and mitochondrial DNA

(2010) Xin Cheng et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

Nucleoside reverse transcriptase inhibitor toxicity and mitochondrial DNA

(2010) Christopher A Koczor et al.   Expert Opinion on Drug Metabolism & Toxicology

Polymerase γ Gene POLG determines the risk of sodium valproate-induced liver toxicity

(2010) Joanna D. Stewart et al.   HEPATOLOGY

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

(2010) J. D. Stumpf et al.   HUMAN MOLECULAR GENETICS

A cluster of pathogenic mutations in the 3′–5′ exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation

(2010) Karolina Szczepanowska et al.   HUMAN MOLECULAR GENETICS

In vivo analysis of mtDNA replication defects in yeast

(2010) Enrico Baruffini et al.   METHODS

Yeast mitochondrial DNA polymerase is a highly processive single-subunit enzyme

(2010) Katrin Viikov et al.   MITOCHONDRION

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

(2010) Enrico Baruffini et al.   MITOCHONDRION

Strand Invasion Structures in the Inverted Repeat of Candida albicans Mitochondrial DNA Reveal a Role for Homologous Recombination in Replication

(2010) Joachim M. Gerhold et al.   MOLECULAR CELL

R964C Mutation of DNA Polymerase   Imparts Increased Stavudine Toxicity by Decreasing Nucleoside Analog Discrimination and Impairing Polymerase Activity

(2009) C. M. Bailey et al.   ANTIMICROBIAL AGENTS AND CHEMOTHERAPY

Structural Insight into Processive Human Mitochondrial DNA Synthesis and Disease-Related Polymerase Mutations

(2009) Young-Sam Lee et al.   CELL

Relationship Between Polymerase Gamma (POLG) Polymorphisms and Antiretroviral Therapy-Induced Lipodystrophy in HIV-1 Infected Patients: A Case-Control Study

(2009) Franck Chiappini et al.   CURRENT HIV RESEARCH

Polymorphisms in Multiple Genes Contribute to the Spontaneous Mitochondrial Genome Instability of Saccharomyces cerevisiae S288C Strains

(2009) L. N. Dimitrov et al.   GENETICS

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

(2009) S. Bulst et al.   HUMAN MOLECULAR GENETICS

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

(2009) Rajesh Kasiviswanathan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical and molecular features of mitochondrial DNA depletion syndromes

(2009) A. Spinazzola et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A variable neurodegenerative phenotype with polymerase   mutation

(2009) S Stricker et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants

(2009) Enrico Baruffini et al.   MITOCHONDRION

Effects of the S288c genetic background and common auxotrophic markers on mitochondrial DNA function inSaccharomyces cerevisiae

(2009) M. J. Young et al.   YEAST

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

(2008) Sherine S.L. Chan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Broad Overexpression of Ribonucleotide Reductase Genes in Mice Specifically Induces Lung Neoplasms

(2008) X. Xu et al.   CANCER RESEARCH

Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion

(2008) Jan-Willem Taanman et al.   HUMAN MUTATION

Mitochondrial nucleoids undergo remodeling in response to metabolic cues

(2008) M. Kucej et al.   JOURNAL OF CELL SCIENCE

DNA2 Resolves Expanding Flap in Mitochondrial Base Excision Repair

(2008) William C. Copeland et al.   MOLECULAR CELL