(Q33814578)

29 July 2017

title

Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G. (English)

1 reference

29 July 2017

3

Carol L Farr

1 reference

29 July 2017

Eino J H Palin

1

1 reference

29 July 2017

Annamari Lesonen

2

1 reference

29 July 2017

Liliya Euro

4

1 reference

29 July 2017

Anu Suomalainen

5

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29 July 2017

Laurie S Kaguni

6

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29 July 2017

language of work or name

English

0 references

publication date

12 February 2010

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Biochimica et Biophysica Acta

29 July 2017

published in

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29 July 2017

volume

1802

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29 July 2017

issue

6

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29 July 2017

page(s)

545-551

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describes a project that uses

29 July 2017

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2860656/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860656

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

4 July 2018

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Functional human mitochondrial DNA polymerase gamma forms a heterotrimer

4 July 2018

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Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

4 July 2018

1 reference

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Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

4 July 2018

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

4 July 2018

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

4 July 2018

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Mutations in the spacer region of Drosophila mitochondrial DNA polymerase affect DNA binding, processivity, and the balance between Pol and Exo function

4 July 2018

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Structural basis for the dual coding potential of 8-oxoguanosine by a high-fidelity DNA polymerase.

4 July 2018

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4 July 2018

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Reconstitution of a minimal mtDNA replisome in vitro

4 July 2018

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Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

4 July 2018

1 reference

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Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

4 July 2018

1 reference

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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

4 July 2018

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

4 July 2018

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The accessory subunit of mtDNA polymerase shares structural homology with aminoacyl-tRNA synthetases: implications for a dual role as a primer recognition factor and processivity clamp

4 July 2018

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VMD: visual molecular dynamics

4 July 2018

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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

4 July 2018

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Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB)

4 July 2018

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A mitochondrial DNA polymerase from embryos of Drosophila melanogaster. Purification, subunit structure, and partial characterization

4 July 2018

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Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

4 July 2018

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Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

4 July 2018

1 reference

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

30 October 2018

1 reference

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Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860656

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

30 October 2018

1 reference

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POLG mutations in Alpers syndrome

30 October 2018

1 reference

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POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

30 October 2018

1 reference

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Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

30 October 2018

1 reference

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POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860656

Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860656

Baculovirus expression reconstitutes Drosophila mitochondrial DNA polymerase

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860656

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860656

Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860656

10.1016/J.BBADIS.2010.02.003

30 October 2018

Identifiers

DOI

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29 July 2017

1 reference

29 July 2017

1 reference