(Q40396587)

English

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

scientific article published on 16 July 2005

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scholarly article

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Europe PubMed Central

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31 December 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16024923%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

mitochondrial DNA

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William C Copeland

3

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31 December 2019

author name string

Sherine S L Chan

1

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31 December 2019

Matthew J Longley

2

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31 December 2019

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publication date

16 July 2005

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31 December 2019

Journal of Biological Chemistry

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31 December 2019

280

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31 December 2019

31341-31346

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31 December 2019

36

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31 December 2019

DNA polymerase gamma, the mitochondrial replicase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

Molecular insights into NRTI inhibition and mitochondrial toxicity revealed from a structural model of the human mitochondrial DNA polymerase.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

Crystal structure of a bacteriophage T7 DNA replication complex at 2.2 A resolution

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

Multiple regions of subunit interaction in Drosophila mitochondrial DNA polymerase: three functional domains in the accessory subunit

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

Differential incorporation and removal of antiviral deoxynucleotides by human DNA polymerase gamma

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

Structural determinants in human DNA polymerase gamma account for mitochondrial toxicity from nucleoside analogs.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

Purification, separation, and identification of the human mtDNA polymerase with and without its accessory subunit

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M506762200

21 January 2018

Identifiers

10.1074/JBC.M506762200

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16024923%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16024923%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

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