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

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

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

Disease impact in chronic progressive external ophthalmoplegia: More than meets the eye

(2011) Bart W. Smits et al.   NEUROMUSCULAR DISORDERS

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

A mechanistic view of human mitochondrial DNA polymerase γ: Providing insight into drug toxicity and mitochondrial disease

(2010) Christopher M. Bailey et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

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

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

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

Role of Histidine 932 of the Human Mitochondrial DNA Polymerase in Nucleotide Discrimination and Inherited Disease

(2010) Dipanwita Batabyal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Mitochondria, spermatogenesis and male infertility

(2010) Singh Rajender et al.   MITOCHONDRION

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

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

Mutations in mitochondrial DNA polymerase-γ promote breast tumorigenesis

(2009) Keshav K Singh et al.   JOURNAL OF HUMAN GENETICS

The unfolding clinical spectrum of POLG mutations

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

ATAXIA WITH OPHTHALMOPLEGIA OR SENSORY NEUROPATHY IS FREQUENTLY CAUSED BY POLG MUTATIONS

(2009) C. Schulte et al.   NEUROLOGY

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

Inherited Mitochondrial Diseases of DNA Replication

(2007) William C. Copeland   Annual Review of Medicine