Associated Papers
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.
Gilea AI et al.
Iubmb Life, 2023
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
Erdinc D et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R et al.
American Journal of Human Genetics, 2022
Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.
Hou Y et al.
Molecular Genetics & Genomic Medicine, 2022
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.
DeBalsi KL et al.
The Journal of Biological Chemistry, 2017
Mitochondrial nucleic acid binding proteins associated with diseases.
Uchiumi T et al.
Frontiers in Bioscience (landmark Edition), 2017
The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication.
Macao B et al.
Nature Communications, 2015
DNA polymerase γ and disease: what we have learned from yeast.
Lodi T et al.
Frontiers in Genetics, 2015
Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanisms.
Qian Y et al.
Frontiers in Genetics, 2015
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Yeast cells expressing the human mitochondrial DNA polymerase reveal correlations between polymerase fidelity and human disease progression.
Qian Y et al.
The Journal of Biological Chemistry, 2014
Clinical and molecular features of POLG-related mitochondrial disease.
Stumpf JD et al.
Cold Spring Harbor Perspectives in Biology, 2013
Phenotypic and genotypic variability in Alpers syndrome.
Sofou K et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2012
Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast.
Baruffini E et al.
Plos One, 2012
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
Alpers syndrome with mutations in POLG: clinical and investigative features.
Hunter MF et al.
Pediatric Neurology, 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
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
Wang W et al.
Nucleic Acids Research, 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
A cluster of pathogenic mutations in the 3'-5' exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation.
Szczepanowska K et al.
Human Molecular Genetics, 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
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ et al.
Human Mutation, 2008
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
Hakonen AH et al.
European Journal of Human Genetics : Ejhg, 2007
Complex heterozygous polymerase gamma mutation and cerebral folate deficiency in a child with refractory partial status.
Samanta D et al.
Neurology India, 0
Complex Heterozygous Polymerase Gamma Mutation and Cerebral Folate Deficiency in a Child with Refractory Partial Status.
Samanta D et al.
Neurology India, 0