Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 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
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
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
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.
Yamazaki T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
Clinical and molecular features of POLG-related mitochondrial disease.
Stumpf JD et al.
Cold Spring Harbor Perspectives in Biology, 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
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
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
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.
Stumpf JD et al.
Cellular and Molecular Life Sciences : Cmls, 2011
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
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
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Wortmann SB et al.
Brain : a Journal of Neurology, 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
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
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.
de Vries MC et al.
European Journal of Pediatrics, 2007
Mitochondrial DNA polymerase-gamma and human disease.
Hudson G et al.
Human Molecular Genetics, 2006
Molecular diagnosis of Alpers syndrome.
Nguyen KV et al.
Journal of Hepatology, 2006
Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.
Chan SS et al.
Dna Repair, 2005
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.
Chan SS et al.
The Journal of Biological Chemistry, 2005
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
Ferrari G et al.
Brain : a Journal of Neurology, 2005