Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. - Wikidata - wikimedia - TriplyDB

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

http://www.wikidata.org/entity/Q54798811

about

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations DNA polymerase γ and disease: what we have learned from yeast Alpers-Huttenlocher syndrome Epilepsy 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 gene A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.A novel POLG gene mutation in a patient with SANDO Disease 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.

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Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

http://www.wikidata.org/entity/Q54798811

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

@zh

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

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Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

@en

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Alistair T Pagnamenta

http://www.w3.org/2001/XMLSchema#string

Andrew A M Morris

http://www.w3.org/2001/XMLSchema#string

James V Leonard

http://www.w3.org/2001/XMLSchema#string

Maria Bitner-Glindzicz

http://www.w3.org/2001/XMLSchema#string

Peter T Clayton

http://www.w3.org/2001/XMLSchema#string

Shamima Rahman

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P2860

The mitochondrial p55 accessory subunit of human DNA polymerase gamma enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance

Functional human mitochondrial DNA polymerase gamma forms a heterotrimer

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

The EM structure of human DNA polymerase gamma reveals a localized contact between the catalytic and accessory subunits

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

mtDNA replicative potential remains constant during ageing: polymerase gamma activity does not correlate with age related cytochrome oxidase activity decline in platelets

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

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248-254

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scholarly article

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10.1002/HUMU.20852

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2

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30

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Jan-Willem Taanman

Anthony H V Schapira

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2009-02-01T00:00:00Z

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18828154

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mitochondrial DNA