Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders
about
Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutationsMitochondrial DNA replication and disease: insights from DNA polymerase γ mutationsMitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosisAlpers-Huttenlocher syndromeMMS 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.Preparation of human mitochondrial single-stranded DNA-binding protein.POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.A mechanistic view of human mitochondrial DNA polymerase gamma: providing insight into drug toxicity and mitochondrial diseaseFunctional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.Mitochondrial genome maintenance in health and disease.mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiaeFunctional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.Defects of mitochondrial DNA replication.Defects in mitochondrial DNA replication and human diseaseInherited mitochondrial diseases of DNA replicationPolymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.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.Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG geneDepletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.Clinical and molecular features of POLG-related mitochondrial disease.Molecular diagnostics and mitochondrial dysfunction: a future perspective.DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.The mitochondrial DNA polymerase in health and disease.A transient kinetic approach to investigate nucleoside inhibitors of mitochondrial DNA polymerase gamma.The importance of mitochondria in age-related and inherited eye disorders.A brief review on human mtDNA mutations and NRTI-associated mtDNA toxicity and mutations.Mitochondrial DNA maintenance: an appraisal.Inherited mitochondrial genomic instability and chemical exposures.Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity.Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1)Molecular pathogenesis of polymerase γ-related neurodegeneration.A role for mitochondria in gestational diabetes mellitus?Association of downregulated HDAC 2 with the impaired mitochondrial function and cytokine secretion in the monocytes/macrophages from gestational diabetes mellitus patients.Do carriers of POLG mutation W748S have disease manifestations?
P2860
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P2860
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Modulation of the W748S mutati ...... hismin mitochondrial disorders
@ast
Modulation of the W748S mutati ...... hismin mitochondrial disorders
@en
type
label
Modulation of the W748S mutati ...... hismin mitochondrial disorders
@ast
Modulation of the W748S mutati ...... hismin mitochondrial disorders
@en
prefLabel
Modulation of the W748S mutati ...... hismin mitochondrial disorders
@ast
Modulation of the W748S mutati ...... hismin mitochondrial disorders
@en
P2860
P356
P1476
Modulation of the W748S mutati ...... hismin mitochondrial disorders
@en
P2093
Matthew J Longley
Sherine S L Chan
P2860
P304
P356
10.1093/HMG/DDL424
P577
2006-11-06T00:00:00Z