Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.
about
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosisDisease-causing missense mutations in human DNA helicase disordersNovel subcellular localization of the DNA helicase Twinkle at the kinetochore complex during mitosis in neuronal-like progenitor cells.Mitochondrial genome maintenance in health and disease.Defects of mitochondrial DNA replication.The N-terminal domain of the Drosophila mitochondrial replicative DNA helicase contains an iron-sulfur cluster and binds DNADefects in mitochondrial DNA replication and human diseaseMutations in Twinkle primase-helicase cause Perrault syndrome with neurologic featuresBiochemical analysis of human POLG2 variants associated with mitochondrial disease.Types and effects of protein variations.Borrowing nuclear DNA helicases to protect mitochondrial DNA.Human mitochondrial DNA polymerase γ exhibits potential for bypass and mutagenesis at UV-induced cyclobutane thymine dimersThe interface of transcription and DNA replication in the mitochondriaHuman mitochondrial DNA helicase TWINKLE is both an unwinding and annealing helicaseDNA helicases associated with genetic instability, cancer, and aging.Structure, function and evolution of the animal mitochondrial replicative DNA helicase.Clinical and molecular features of POLG-related mitochondrial disease.Animal Mitochondrial DNA Replication.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.Polar bears exhibit genome-wide signatures of bioenergetic adaptation to life in the arctic environmentMitochondrial DNA maintenance: an appraisal.Inherited mitochondrial genomic instability and chemical exposures.Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases.Mouse models for mitochondrial diseases.The hexameric structure of the human mitochondrial replicative helicase Twinkle.Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.Off-Target Effects of Drugs that Disrupt Human Mitochondrial DNA Maintenance.
P2860
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P2860
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին 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
Disease variants of the human ...... olysis, and helicase activity.
@ast
Disease variants of the human ...... olysis, and helicase activity.
@en
Disease variants of the human ...... olysis, and helicase activity.
@nl
type
label
Disease variants of the human ...... olysis, and helicase activity.
@ast
Disease variants of the human ...... olysis, and helicase activity.
@en
Disease variants of the human ...... olysis, and helicase activity.
@nl
prefLabel
Disease variants of the human ...... olysis, and helicase activity.
@ast
Disease variants of the human ...... olysis, and helicase activity.
@en
Disease variants of the human ...... olysis, and helicase activity.
@nl
P2093
P2860
P356
P1476
Disease variants of the human ...... rolysis, and helicase activity
@en
P2093
Farida S Sharief
Margaret M Humble
Matthew J Longley
P2860
P304
29690-29702
P356
10.1074/JBC.M110.151795
P407
P577
2010-07-20T00:00:00Z