(Q35620870)

English

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.

scientific article published on 8 August 2011

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scholarly article

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9 February 2020

2 references

Europe PubMed Central

6 November 2020

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21824913%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

X-linked adrenoleukodystrophy

4 references

24 March 2019

25 April 2019

20 June 2019

30 June 2019

genetic variation

1 reference

14 September 2019

1 reference

28 September 2019

1 reference

6 November 2020

Alpers' disease

1 reference

based on heuristic

inferred from title

Gregory A. Farnum

2

1 reference

Europe PubMed Central

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9 February 2020

author name string

Liliya Euro

1

1 reference

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9 February 2020

Eino Palin

3

1 reference

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9 February 2020

Anu Suomalainen

4

1 reference

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9 February 2020

Laurie S Kaguni

5

1 reference

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9 February 2020

language of work or name

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publication date

8 August 2011

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9 February 2020

1 November 2011

1 reference

6 November 2020

Nucleic Acids Research

8 references

24 March 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

28 September 2019

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21824913%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

6 November 2020

39

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Europe PubMed Central

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9 February 2020

21

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Europe PubMed Central

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9 February 2020

9072-9084

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21824913%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

copyright license

Creative Commons Attribution-NonCommercial 3.0 Unported

7 references

Europe PubMed Central

24 March 2019

Europe PubMed Central

25 April 2019

Europe PubMed Central

20 June 2019

Europe PubMed Central

30 June 2019

Europe PubMed Central

14 September 2019

Europe PubMed Central

28 September 2019

Europe PubMed Central

6 November 2020

on focus list of Wikimedia project

0 references

Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia

1 reference

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Role of a GAG hinge in the nucleotide-induced conformational change governing nucleotide specificity by T7 DNA polymerase

1 reference

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12 July 2018

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

A cluster of pathogenic mutations in the 3'-5' exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation

1 reference

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12 July 2018

A single mutation in human mitochondrial DNA polymerase Pol gammaA affects both polymerization and proofreading activities of only the holoenzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

Mitochondrial DNA depletion syndromes--many genes, common mechanisms

1 reference

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12 July 2018

mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae

1 reference

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12 July 2018

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

1 reference

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12 July 2018

The kinetic and chemical mechanism of high-fidelity DNA polymerases

1 reference

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Disruption of mitochondrial DNA replication in Drosophila increases mitochondrial fast axonal transport in vivo

1 reference

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12 July 2018

Each monomer of the dimeric accessory protein for human mitochondrial DNA polymerase has a distinct role in conferring processivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

Mechanisms of DNA polymerases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

Structural Basis for DNA-Hairpin Promoter Recognition by the Bacteriophage N4 Virion RNA Polymerase

1 reference

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12 July 2018

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

X-ray crystal structure of the polymerase domain of the bacteriophage N4 virion RNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

Base pair hydrogen bonds are essential for proofreading selectivity by the human mitochondrial DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

Importance of hydrogen bonding for efficiency and specificity of the human mitochondrial DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

DNA polymerase gamma in mitochondrial DNA replication and repair.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

Functional human mitochondrial DNA polymerase gamma forms a heterotrimer

1 reference

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12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

12 July 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

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

1 reference

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

1 reference

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12 July 2018

DNA polymerase gamma, the mitochondrial replicase

1 reference

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Processive DNA synthesis observed in a polymerase crystal suggests a mechanism for the prevention of frameshift mutations

1 reference

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

1 reference

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

1 reference

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The tamas gene, identified as a mutation that disrupts larval behavior in Drosophila melanogaster, codes for the mitochondrial DNA polymerase catalytic subunit (DNApol-gamma125).

1 reference

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1 reference

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Identification of 5'-deoxyribose phosphate lyase activity in human DNA polymerase gamma and its role in mitochondrial base excision repair in vitro

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Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia

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Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

1 reference

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Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants.

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

1 reference

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25 September 2018

POLG mutations in Alpers syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

25 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241644

25 September 2018

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

1 reference

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25 September 2018

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

1 reference

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

1 reference

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POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/21824913

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/NAR/GKR618

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21824913%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21824913%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21824913%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

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