Associated Papers
Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.
Somai S et al.
International Journal of Molecular Sciences, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.
Gilea AI et al.
Iubmb Life, 2023
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.
Shekari S et al.
Nature Medicine, 2023
Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk.
Müller-Nedebock AC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.
Masingue M et al.
Mitochondrion, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Identification of the first homozygous POLG mutation causing non-syndromic ovarian dysfunction.
Chen B et al.
Climacteric : the Journal of the International Menopause Society, 2018
The mitochondrial DNA polymerase gamma degrades linear DNA fragments precluding the formation of deletions.
Nissanka N et al.
Nature Communications, 2018
Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.
Castiglioni C et al.
European Journal of Human Genetics : Ejhg, 2018
Inherited mitochondrial genomic instability and chemical exposures.
Chan SSL
Toxicology, 2017
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.
Nurminen A et al.
Bba Clinical, 2017
Premature Ovarian Failure in French Canadian Leigh Syndrome.
Ghaddhab C et al.
The Journal of Pediatrics, 2017
Mitochondrial disease and endocrine dysfunction.
Chow J et al.
Nature Reviews. Endocrinology, 2017
Human mitochondrial DNA replication machinery and disease.
Young MJ et al.
Current Opinion in Genetics & Development, 2016
Mitochondrial DNA maintenance: an appraisal.
Akhmedov AT et al.
Molecular and Cellular Biochemistry, 2015
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?
Da Pozzo P et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
Mitochondrial dysfunction and risk of cancer.
Lund M et al.
British Journal of Cancer, 2015
DNA polymerase γ and disease: what we have learned from yeast.
Lodi T et al.
Frontiers in Genetics, 2015
Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.
Vital A et al.
Journal of the Peripheral Nervous System : Jpns, 2014
MMS exposure promotes increased MtDNA mutagenesis in the presence of replication-defective disease-associated DNA polymerase γ variants.
Stumpf JD et al.
Plos Genetics, 2014
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
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients.
Brandon BR et al.
Journal of Neurology, 2013
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
POLG mutations and age at menopause.
Duncan AJ et al.
Human Reproduction (oxford, England), 2012
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 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
Polymerase gamma disease through the ages.
Saneto RP et al.
Developmental Disabilities Research Reviews, 2010
The unfolding clinical spectrum of POLG mutations.
Blok MJ et al.
Journal of Medical Genetics, 2009
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
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ et al.
Human Mutation, 2008
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
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
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.
Graziewicz MA et al.
Nature Structural & Molecular Biology, 2004
Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain.
Del Bo R et al.
Neurology, 2003
Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders.
Copeland WC et al.
Acta Biochimica Polonica, 2003