Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
about
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutationsDNA polymerase γ and disease: what we have learned from yeastAlpers-Huttenlocher syndromeEpilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.Mitochondrial genome maintenance in health and disease.The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.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 geneA novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.A novel POLG gene mutation in a patient with SANDODisease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.Heterogeneous nuclear ribonucleoprotein A2 is a common transcriptional coactivator in the nuclear transcription response to mitochondrial respiratory stress.Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.Drug management in emergent liver transplantation of mitochondrial disorder carriers: review of the literature.Mitochondrial contribution to Parkinson's disease pathogenesis.Mitochondrial pathology in Parkinson's disease.Mitochondrial disease and epilepsy.Protecting the mitochondrial powerhouse.Leigh syndrome: neuropathology and pathogenesis.Leigh syndrome: One disorder, more than 75 monogenic causes.The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases.
P2860
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P2860
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
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2009年學術文章
@zh-hant
name
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
@en
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
@nl
type
label
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
@en
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
@nl
prefLabel
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
@en
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
@nl
P2093
P2860
P50
P356
P1433
P1476
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
@en
P2093
Alistair T Pagnamenta
Andrew A M Morris
James V Leonard
Maria Bitner-Glindzicz
Peter T Clayton
Shamima Rahman
P2860
P304
P356
10.1002/HUMU.20852
P577
2009-02-01T00:00:00Z