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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.
Li LX et al.
Journal of Molecular Neuroscience : Mn, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.
Castiglioni C et al.
European Journal of Human Genetics : Ejhg, 2018
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.
Nurminen A et al.
Bba Clinical, 2017
Human mitochondrial DNA replication machinery and disease.
Young MJ et al.
Current Opinion in Genetics & Development, 2016
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
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
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
Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?
Habek M et al.
The Neurologist, 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
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
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
Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations.
Giordano C et al.
Archives of Neurology, 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
Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.
Chan SS et al.
Methods in Molecular Biology (clifton, N.j.), 2009
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy.
Cagnoli C et al.
Journal of Neurology, 2008
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human.
Baruffini E et al.
Biochimica Et Biophysica Acta, 2007
Mitochondrial dysfunction as the molecular basis of bipolar disorder: therapeutic implications.
Kato T
Cns Drugs, 2007
Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes.
Kasahara T et al.
Molecular Psychiatry, 2006
Mitochondrial DNA mutators.
Foury F et al.
Cellular and Molecular Life Sciences : Cmls, 2004
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
Mancuso M et al.
Neurology, 2004