about
POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity.Mitochondrial Single-stranded DNA-binding Proteins Stimulate the Activity of DNA Polymerase γ by Organization of the Template DNA.Zebrafish lacking functional DNA polymerase gamma survive to juvenile stage, despite rapid and sustained mitochondrial DNA depletion, altered energetics and growthBiolayer Interferometry: A Novel Method to Elucidate Protein-Protein and Protein-DNA Interactions in the Mitochondrial DNA ReplisomeComplementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered flies.Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.Human mitochondrial DNA replication machinery and disease.Inherited mitochondrial genomic instability and chemical exposures.Mitochondrial Mutations in Cardiac Disorders.ER-mitochondria contacts couple mtDNA synthesis with mitochondrial division in human cells.Human mitochondrial nucleases.Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.
P2860
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P2860
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
name
Defects of mitochondrial DNA replication.
@ast
Defects of mitochondrial DNA replication.
@en
Defects of mitochondrial DNA replication.
@nl
type
label
Defects of mitochondrial DNA replication.
@ast
Defects of mitochondrial DNA replication.
@en
Defects of mitochondrial DNA replication.
@nl
prefLabel
Defects of mitochondrial DNA replication.
@ast
Defects of mitochondrial DNA replication.
@en
Defects of mitochondrial DNA replication.
@nl
P2860
P356
P1476
Defects of mitochondrial DNA replication
@en
P2093
William C Copeland
P2860
P304
P356
10.1177/0883073814537380
P577
2014-06-30T00:00:00Z