(Q34098312)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24985751%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

Defects of mitochondrial DNA replication (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24985751%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24985751%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

author name string

William C Copeland

series ordinal

1

1 reference

PubMed publication ID

24985751

31 July 2017

publication date

30 June 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24985751%20AND%20SRC:MED&resulttype=core&format=json

Journal of Child Neurology

21 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24985751%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24985751%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24985751%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

page(s)

1216-1224

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24985751%20AND%20SRC:MED&resulttype=core&format=json

The exonuclease activity of the yeast mitochondrial DNA polymerase γ suppresses mitochondrial DNA deletions between short direct repeats in Saccharomyces cerevisiae

21 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Polymerase gamma disease through the ages

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Mouse models of mitochondrial DNA defects and their relevance for human disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Inherited mitochondrial diseases of DNA replication

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

DNA replication and transcription in mammalian mitochondria

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

DNA polymerase gamma in mitochondrial DNA replication and repair.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Consequences of mutations in human DNA polymerase gamma.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

DNA polymerase gamma, the mitochondrial replicase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Reconstitution of a minimal mtDNA replisome in vitro

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Premature ageing in mice expressing defective mitochondrial DNA polymerase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Precise determination of mitochondrial DNA copy number in human skeletal and cardiac muscle by a PCR-based assay: lack of change of copy number with age.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Crystal structure and deletion analysis show that the accessory subunit of mammalian DNA polymerase gamma, Pol gamma B, functions as a homodimer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Mitochondrial diseases in man and mouse

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Diseases of the mitochondrial DNA.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146710

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

5 July 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

Molecular diagnosis of Alpers syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

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/10.1177%2F0883073814537380

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/10.1177%2F0883073814537380

Mitochondrial point mutations do not limit the natural lifespan of mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

Recessive twinkle mutations cause severe epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

Structure-function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814537380

The fidelity of human DNA polymerase gamma with and without exonucleolytic proofreading and the p55 accessory subunit

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24985751

12 December 2020

inferred from PubMed ID database lookup

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24985751

12 December 2020

inferred from PubMed ID database lookup

Patient homozygous for a recessive POLG mutation presents with features of MERRF

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24985751

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1177/0883073814537380

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24985751%20AND%20SRC:MED&resulttype=core&format=json

release_m5c5dwhy75ax3nuanygysdrfle

21 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/m5c5dwhy75ax3nuanygysdrfle

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24985751%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

PubMed publication ID

24985751

1 reference