Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.
about
Antimutator alleles of yeast DNA polymerase gamma modulate the balance between DNA synthesis and excisionAlpers-Huttenlocher syndrome: the role of a multidisciplinary health care teamDNA polymerase γ and disease: what we have learned from yeastAlpers-Huttenlocher syndromeMitochondria: in sickness and in healthPathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.Defects of mitochondrial DNA replication.Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast.Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanismsReduced stimulation of recombinant DNA polymerase γ and mitochondrial DNA (mtDNA) helicase by variants of mitochondrial single-stranded DNA-binding protein (mtSSB) correlates with defects in mtDNA replication in animal cells.Evolution of the metazoan mitochondrial replicase.A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.Mitochondrial Single-stranded DNA-binding Proteins Stimulate the Activity of DNA Polymerase γ by Organization of the Template DNA.Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?Structure, function and evolution of the animal mitochondrial replicative DNA helicase.Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.Animal Mitochondrial DNA Replication.Human mitochondrial DNA replication machinery and disease.Replicating animal mitochondrial DNA.Developmental arrest in Drosophila melanogaster caused by mitochondrial DNA replication defects cannot be rescued by the alternative oxidase
P2860
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P2860
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Clustering of Alpers disease m ...... itochondrial replicase, Pol γ.
@ast
Clustering of Alpers disease m ...... itochondrial replicase, Pol γ.
@en
type
label
Clustering of Alpers disease m ...... itochondrial replicase, Pol γ.
@ast
Clustering of Alpers disease m ...... itochondrial replicase, Pol γ.
@en
prefLabel
Clustering of Alpers disease m ...... itochondrial replicase, Pol γ.
@ast
Clustering of Alpers disease m ...... itochondrial replicase, Pol γ.
@en
P2093
P2860
P921
P356
P1476
Clustering of Alpers disease m ...... mitochondrial replicase, Pol γ
@en
P2093
Anu Suomalainen
Eino Palin
Laurie S Kaguni
Liliya Euro
P2860
P304
P356
10.1093/NAR/GKR618
P407
P5008
P577
2011-08-08T00:00:00Z