Synergistic Effects of thein cisT251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations

Mitochondrial Redox Dysfunction and Environmental Exposures

(2015) Samuel W. Caito et al.   ANTIOXIDANTS & REDOX SIGNALING

Structural basis for processivity and antiviral drug toxicity in human mitochondrial DNA replicase

(2015) M. R. Szymanski et al.   EMBO JOURNAL

POLG2disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity

(2015) Matthew J. Young et al.   HUMAN MOLECULAR GENETICS

The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review

(2015) Carmela Scuderi et al.   NEUROMUSCULAR DISORDERS

The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication

(2015) Bertil Macao et al.   Nature Communications

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

Defects of Mitochondrial DNA Replication

(2014) William C. Copeland   JOURNAL OF CHILD NEUROLOGY

Fatal Human Herpesvirus 6–Associated Encephalitis in Two Boys With Underlying POLG Mitochondrial Disorders

(2014) Duha Al-Zubeidi et al.   PEDIATRIC NEUROLOGY

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

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

(2013) Cécile Rouzier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Translesion Synthesis Past Acrolein-derived DNA Adducts by Human Mitochondrial DNA Polymerase γ

(2013) Rajesh Kasiviswanathan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondria as a Target of Environmental Toxicants

(2013) Joel N. Meyer et al.   TOXICOLOGICAL SCIENCES

Biochemical analysis of human POLG2 variants associated with mitochondrial disease

(2011) Matthew J. Young et al.   HUMAN MOLECULAR GENETICS

Mitochondrial DNA polymerase   mutations: an ever expanding molecular and clinical spectrum

(2011) S. Tang et al.   JOURNAL OF MEDICAL GENETICS

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

(2011) Rajesh Kasiviswanathan et al.   MITOCHONDRION

Is It ADEM, POLG, or Both?

(2010) Mandy O. Harris et al.   ARCHIVES OF NEUROLOGY

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

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

Polymerase gamma disease through the ages

(2010) Russell P. Saneto et al.   Developmental Disabilities Research Reviews

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

(2010) Joanna D. Stewart et al.   HEPATOLOGY

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

A Single Mutation in Human Mitochondrial DNA Polymerase Pol γA Affects Both Polymerization and Proofreading Activities of Only the Holoenzyme

(2010) Young-Sam Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2010) Rajesh Kasiviswanathan et al.   METHODS

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders

(2010) Bruce H. Cohen et al.   METHODS

Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations

(2010) Michael D. Weiss et al.   MUSCLE & NERVE

Mitochondrial DNA depletion in progressive external ophthalmoplegia caused byPOLG1mutations

(2009) C. Tzoulis et al.   ACTA NEUROLOGICA SCANDINAVICA

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

Mitochondrial DNA mutations and human disease

(2009) Helen A.L. Tuppen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

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

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

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

(2009) J D Stewart et al.   JOURNAL OF MEDICAL GENETICS

The unfolding clinical spectrum of POLG mutations

(2009) M J Blok et al.   JOURNAL OF MEDICAL GENETICS

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ ( POLG1 )

(2008) R McFarland et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

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

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

(2008) Neil Ashley et al.   HUMAN MOLECULAR GENETICS

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

(2008) Lee-Jun C. Wong et al.   HUMAN MUTATION