Mitochondrial DNA polymerase-gamma and human disease (Q34567471)

3 August 2017

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title

Mitochondrial DNA polymerase-gamma and human disease (English)

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3 August 2017

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2

Patrick F Chinnery

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3 August 2017

1

Gavin Hudson

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3 August 2017

1 October 2006

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3 August 2017

Human Molecular Genetics

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3 August 2017

15 Spec No 2

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3 August 2017

R244-52

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Mitochondrial respiratory-chain diseases

3 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

The genetics and pathology of oxidative phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Mitochondrial DNA mutations in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

The epidemiology of mitochondrial disorders--past, present and future

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Mitochondrial toxicity of nrti antiviral drugs: an integrated cellular perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Mouse L cell mitochondrial DNA molecules are selected randomly for replication throughout the cell cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

DNA polymerase gamma, the mitochondrial replicase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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/10.1093%2FHMG%2FDDL233

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/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Searching for genes affecting the structural integrity of the mitochondrial genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Twinkle, the mitochondrial replicative DNA helicase, is widespread in the eukaryotic radiation and may also be the mitochondrial DNA primase in most eukaryotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Human mitochondrial tRNA processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Human mitochondrial topoisomerase I

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Dual localization of human DNA topoisomerase IIIalpha to mitochondria and nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Antisense-mediated decrease in DNA ligase III expression results in reduced mitochondrial DNA integrity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

In organello footprint analysis of human mitochondrial DNA: human mitochondrial transcription factor A interactions at the origin of replication

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Nuclear control of respiratory gene expression in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Early-onset familial parkinsonism due to POLG mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Molecular diagnosis of Alpers syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

POLG mutations in Alpers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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/10.1093%2FHMG%2FDDL233

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/10.1093%2FHMG%2FDDL233

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/10.1093%2FHMG%2FDDL233

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/10.1093%2FHMG%2FDDL233

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Two direct repeats cause most human mtDNA deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Premature ageing in mice expressing defective mitochondrial DNA polymerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Acute valproate poisoning: pharmacokinetics, alteration in fatty acid metabolism, and changes during therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Role of adenine nucleotide translocator 1 in mtDNA maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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/10.1093%2FHMG%2FDDL233

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/10.1093%2FHMG%2FDDL233

Reconstitution of a minimal mtDNA replisome in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Distinct genomic copy number in mitochondria of different mammalian organs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Mitochondrial DNA maintenance in vertebrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

A bidirectional origin of replication maps to the major noncoding region of human mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Discovery of a major D-loop replication origin reveals two modes of human mtDNA synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

DNA polymerase gamma in mitochondrial DNA replication and repair.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

The Clinical Significance of the POLG Gene Polymorphism in Male Infertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL233

21 January 2018

Identifiers

DOI

10.1093/HMG/DDL233

1 reference

release_tyyqztocbrbdjnr6llnpvwjizu

3 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tyyqztocbrbdjnr6llnpvwjizu

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

16987890

1 reference

PubMed ID

16987890