(Q54798811)

3 June 2018

title

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

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3 June 2018

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6

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3 June 2018

Anthony H V Schapira

9

object named as

Anthony H V Schapira

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3 June 2018

1

Jan-Willem Taanman

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3 June 2018

Shamima Rahman

2

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3 June 2018

Alistair T Pagnamenta

3

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3 June 2018

Andrew A M Morris

4

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3 June 2018

Maria Bitner-Glindzicz

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3 June 2018

James V Leonard

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3 June 2018

Peter T Clayton

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3 June 2018

publication date

1 February 2009

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3 June 2018

published in

Human Mutation

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3 June 2018

volume

30

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3 June 2018

issue

2

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3 June 2018

page(s)

248-254

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3 June 2018

describes a project that uses

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Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.

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https://api.crossref.org/works/10.1002%2FHUMU.20852

The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

A novel processive mechanism for DNA synthesis revealed by structure, modeling and mutagenesis of the accessory subunit of human mitochondrial DNA polymerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

DNA polymerase gamma in mitochondrial DNA replication and repair.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20852

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

Characterization of the native and recombinant catalytic subunit of human DNA polymerase gamma: identification of residues critical for exonuclease activity and dideoxynucleotide sensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

Replication of mitochondrial DNA occurs throughout the mitochondria of cultured human cells

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20852

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

Blue Native electrophoresis to study mitochondrial and other protein complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

Ribonuclease H from rat liver. I. Partial purification and characterization of nuclear ribonuclease H1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20852

Eukaryotic DNA polymerases

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20852

Functional human mitochondrial DNA polymerase gamma forms a heterotrimer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

7 January 2021

Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20852

7 January 2021

Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication

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https://api.crossref.org/works/10.1002%2FHUMU.20852

7 January 2021

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

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https://api.crossref.org/works/10.1002%2FHUMU.20852

7 January 2021

Identifiers

DOI

10.1002/HUMU.20852

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3 June 2018

PubMed ID

18828154

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3 June 2018