Associated Papers
The POLγ Y951N patient mutation disrupts the switch between DNA synthesis and proofreading, triggering mitochondrial DNA instability.
Forslund JME et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.
Gilea AI et al.
Iubmb Life, 2023
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
DNA polymerase γ and disease: what we have learned from yeast.
Lodi T et al.
Frontiers in Genetics, 2015
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.
Farnum GA et al.
Biochimica Et Biophysica Acta, 2014
Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.
Sohl CD et al.
Human Molecular Genetics, 2013
Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia.
Smits BW et al.
Journal of Neurology, 2011
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.
Euro L et al.
Nucleic Acids Research, 2011
Biochemical analysis of the G517V POLG variant reveals wild-type like activity.
Kasiviswanathan R et al.
Mitochondrion, 2011
Replication pauses of the wild-type and mutant mitochondrial DNA polymerase gamma: a simulation study.
Song Z et al.
Plos Computational Biology, 2011
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
Tang S et al.
Journal of Medical Genetics, 2011
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
Zhang L et al.
Archives of Pathology & Laboratory Medicine, 2011
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
Baruffini E et al.
Mitochondrion, 2011
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.
Stumpf JD et al.
Cellular and Molecular Life Sciences : Cmls, 2011
Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency.
Tong ZB et al.
Fertility and Sterility, 2010
Role of histidine 932 of the human mitochondrial DNA polymerase in nucleotide discrimination and inherited disease.
Batabyal D et al.
The Journal of Biological Chemistry, 2010
Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.
Kasiviswanathan R et al.
Methods (san Diego, Calif.), 2010
mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.
Stumpf JD et al.
Human Molecular Genetics, 2010
Polymerase gamma 1 mutations: clinical correlations.
Milone M et al.
The Neurologist, 2010
The mitochondrial DNA polymerase in health and disease.
Copeland WC
Sub-cellular Biochemistry, 2010
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
Chan SS et al.
Biochimica Et Biophysica Acta, 2009
Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.
Chan SS et al.
Methods in Molecular Biology (clifton, N.j.), 2009
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.
Ashley N et al.
Human Molecular Genetics, 2007
Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment.
Yamanaka H et al.
The Journal of Infectious Diseases, 2007
Mitochondrial DNA polymerase-gamma and human disease.
Hudson G et al.
Human Molecular Genetics, 2006
Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.
Stuart GR et al.
Human Molecular Genetics, 2006
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
Ferrari G et al.
Brain : a Journal of Neurology, 2005
Dominance in mitochondrial disorders.
Zeviani M et al.
Journal of Inherited Metabolic Disease, 2005
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.
Graziewicz MA et al.
Nature Structural & Molecular Biology, 2004
Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders.
Copeland WC et al.
Acta Biochimica Polonica, 2003
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
Lamantea E et al.
Annals of Neurology, 2002