Associated Papers
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.
Han X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes.
Li H et al.
Frontiers in Pharmacology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
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
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.
Scuderi C et al.
Neuromuscular Disorders : Nmd, 2015
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
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
Mitochondrial genome maintenance in health and disease.
Copeland WC et al.
Dna Repair, 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
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
Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.
Kasiviswanathan R et al.
Methods (san Diego, Calif.), 2010
Quantitative evaluation of the mitochondrial DNA depletion syndrome.
Dimmock D et al.
Clinical Chemistry, 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
Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.
Kasiviswanathan R et al.
The Journal of Biological Chemistry, 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
Defects in mitochondrial DNA replication and human disease.
Copeland WC
Critical Reviews in Biochemistry and Molecular Biology, 0