A single mutation in human mitochondrial DNA polymerase Pol gammaA affects both polymerization and proofreading activities of only the holoenzyme.
about
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutationsAlpers-Huttenlocher syndrome: the role of a multidisciplinary health care teamAlpers-Huttenlocher syndromeMitochondrial genome maintenance in health and disease.Biochemical analysis of human POLG2 variants associated with mitochondrial disease.Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanismsClustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.Human DNA Polymerase ν Catalyzes Correct and Incorrect DNA Synthesis with High Catalytic Efficiency.Structural basis for processivity and antiviral drug toxicity in human mitochondrial DNA replicasePOLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity.Mapping 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.Exonuclease of human DNA polymerase gamma disengages its strand displacement function.Structural insight on processivity, human disease and antiviral drug toxicity.Mitochondrial DNA maintenance: an appraisal.Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome
P2860
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P2860
A single mutation in human mitochondrial DNA polymerase Pol gammaA affects both polymerization and proofreading activities of only the holoenzyme.
description
2010 nî lūn-bûn
@nan
2010 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A single mutation in human mit ...... vities of only the holoenzyme.
@ast
A single mutation in human mit ...... vities of only the holoenzyme.
@en
A single mutation in human mit ...... vities of only the holoenzyme.
@nl
type
label
A single mutation in human mit ...... vities of only the holoenzyme.
@ast
A single mutation in human mit ...... vities of only the holoenzyme.
@en
A single mutation in human mit ...... vities of only the holoenzyme.
@nl
prefLabel
A single mutation in human mit ...... vities of only the holoenzyme.
@ast
A single mutation in human mit ...... vities of only the holoenzyme.
@en
A single mutation in human mit ...... vities of only the holoenzyme.
@nl
P2093
P2860
P356
P1476
A single mutation in human mit ...... vities of only the holoenzyme.
@en
P2093
Ian J Molineux
Kenneth A Johnson
Y Whitney Yin
Young-Sam Lee
P2860
P304
28105-28116
P356
10.1074/JBC.M110.122283
P407
P577
2010-05-31T00:00:00Z