Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.
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Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutationsMitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosisDNA polymerase γ and disease: what we have learned from yeastMMS exposure promotes increased MtDNA mutagenesis in the presence of replication-defective disease-associated DNA polymerase γ variantsPathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy numberMitochondrial genome maintenance in health and disease.mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiaePurification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.Defects of mitochondrial DNA replication.Defects in mitochondrial DNA replication and human diseaseBiochemical analysis of human POLG2 variants associated with mitochondrial disease.Biochemical analysis of the G517V POLG variant reveals wild-type like activity.Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.Human REV3 DNA Polymerase Zeta Localizes to Mitochondria and Protects the Mitochondrial Genome.Structural basis for processivity and antiviral drug toxicity in human mitochondrial DNA replicaseMapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.Clinical and molecular features of POLG-related mitochondrial disease.Human mitochondrial RNA polymerase: evaluation of the single-nucleotide-addition cycle on synthetic RNA/DNA scaffolds.A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.Mitochondrial medicine for neurodegenerative diseases.Inherited mitochondrial genomic instability and chemical exposures.Biophysical studies of mutated K562 DNA (erythroleukemic cells) binding to adriamycin and daunomycin reveal that mutations induce structural changes influencing binding behavior.Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.POLG mutations in Australian patients with mitochondrial disease.
P2860
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P2860
Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 28 May 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Disease mutations in the human ...... mitochondrial DNA replication.
@en
Disease mutations in the human ...... mitochondrial DNA replication.
@nl
type
label
Disease mutations in the human ...... mitochondrial DNA replication.
@en
Disease mutations in the human ...... mitochondrial DNA replication.
@nl
prefLabel
Disease mutations in the human ...... mitochondrial DNA replication.
@en
Disease mutations in the human ...... mitochondrial DNA replication.
@nl
P2093
P2860
P921
P356
P1476
Disease mutations in the human ...... mitochondrial DNA replication.
@en
P2093
Matthew J Longley
Rajesh Kasiviswanathan
Sherine S L Chan
William C Copeland
P2860
P304
19501-19510
P356
10.1074/JBC.M109.011940
P407
P577
2009-05-28T00:00:00Z