Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA (Q24563813)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15181170%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

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

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29 December 2019

1

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29 December 2019

Johannes N Spelbrink

6

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29 December 2019

author name string

Petri Luoma

2

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29 December 2019

Gert van Goethem

3

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29 December 2019

Christine van Broeckhoven

4

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29 December 2019

Anu Suomalainen

5

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29 December 2019

language of work or name

English

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publication date

4 June 2004

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29 December 2019

published in

Nucleic Acids Research

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29 December 2019

volume

32

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29 December 2019

issue

10

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29 December 2019

page(s)

3053-3064

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Premature ageing in mice expressing defective mitochondrial DNA polymerase

29 December 2019

cites work

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

24 March 2017

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24 March 2017

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Hypervariable sites in the mtDNA control region are mutational hotspots

24 March 2017

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Role of adenine nucleotide translocator 1 in mtDNA maintenance

24 March 2017

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

24 March 2017

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24 March 2017

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

24 March 2017

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24 March 2017

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Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

24 March 2017

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

24 March 2017

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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

24 March 2017

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24 March 2017

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

24 March 2017

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Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder

24 March 2017

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Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification

24 March 2017

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Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

27 September 2017

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

27 September 2017

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MtDNA mutations in aging and apoptosis

27 September 2017

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Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders

27 September 2017

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

27 September 2017

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Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes

27 September 2017

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

27 September 2017

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

27 September 2017

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

27 September 2017

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Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication

27 September 2017

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Identification of conserved residues contributing to the activities of adenovirus DNA polymerase

27 September 2017

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Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study

27 September 2017

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27 September 2017

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27 September 2017

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

27 September 2017

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Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication

27 September 2017

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Mitochondrial disease in mouse results in increased oxidative stress

27 September 2017

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27 September 2017

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Protein binding to a single termination-associated sequence in the mitochondrial DNA D-loop region

27 September 2017

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

27 September 2017

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Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

27 September 2017

1 reference

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Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=434440

Organization of multiple nucleoids and DNA molecules in mitochondria of a human cell

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=434440

Transcription and replication of animal mitochondrial DNAs.

27 September 2017

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A sensitive genetic assay for the detection of cytosine deamination: determination of rate constants and the activation energy

27 September 2017

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Mitochondrial genetics and human disease

27 September 2017

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

27 September 2017

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Structural elements highly preserved during the evolution of the D-loop-containing region in vertebrate mitochondrial DNA.

30 May 2018

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

30 May 2018

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

28 November 2018

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Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone

28 November 2018

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Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA.

28 November 2018

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

28 November 2018

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Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states

28 November 2018

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12 December 2020

Response: The mitochondrial DNA replication bubble has not burst

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12 December 2020

The mitochondrial DNA replication bubble has not burst

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12 December 2020

Mitochondrial disorders come full circle

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12 December 2020

Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain

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12 December 2020

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses

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12 December 2020

Yeast ARMs (DNA at-risk motifs) can reveal sources of genome instability

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12 December 2020

Lack of WRN results in extensive deletion at nonhomologous joining ends

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12 December 2020

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients

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12 December 2020

Identifiers

DOI

10.1093/NAR/GKH634

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15181170%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15181170%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference