Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.
about
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegiaDNA polymerase γ and disease: what we have learned from yeastMMS exposure promotes increased MtDNA mutagenesis in the presence of replication-defective disease-associated DNA polymerase γ variantsFunctional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.Defects of mitochondrial DNA replication.Role of histidine 932 of the human mitochondrial DNA polymerase in nucleotide discrimination and inherited disease.Defects in mitochondrial DNA replication and human diseaseMitochondrial DNA polymerase-gamma and human disease.Inherited mitochondrial diseases of DNA replicationModulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disordersDecreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma.Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.Depletion 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.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.De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 GeneInherited mitochondrial genomic instability and chemical exposures.Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.Mitochondrial Depletion Syndromes in Children and Adults
P2860
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P2860
Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Mono-allelic POLG expression r ...... patient with Alpers syndrome.
@en
Mono-allelic POLG expression r ...... patient with Alpers syndrome.
@nl
type
label
Mono-allelic POLG expression r ...... patient with Alpers syndrome.
@en
Mono-allelic POLG expression r ...... patient with Alpers syndrome.
@nl
prefLabel
Mono-allelic POLG expression r ...... patient with Alpers syndrome.
@en
Mono-allelic POLG expression r ...... patient with Alpers syndrome.
@nl
P2093
P1433
P1476
Mono-allelic POLG expression r ...... a patient with Alpers syndrome
@en
P2093
Matthew J Longley
Robert K Naviaux
Sherine S L Chan
P304
P356
10.1016/J.DNAREP.2005.08.010
P577
2005-09-21T00:00:00Z