Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. (Q28504546)

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7 January 2020

title

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance (English)

1 reference

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Thymidine kinase 2, mitochondrial

7 January 2020

main subject

mitochondrial DNA

0 references

1 reference

GOA release 2020-03-11

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3

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7 January 2020

Lauren M Tanabe

6

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7 January 2020

William T Dauer

7

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7 January 2020

author name string

Beatriz Dorado

2

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7 January 2020

Angeles García-Cazorla

4

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7 January 2020

Eduardo Bonilla

8

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7 January 2020

Kurenai Tanji

9

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7 January 2020

Michio Hirano

10

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7 January 2020

Hasan O Akman

1

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7 January 2020

Maya R Vilà

5

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7 January 2020

publication date

8 May 2008

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7 January 2020

published in

Human Molecular Genetics

1 reference

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7 January 2020

volume

17

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7 January 2020

page(s)

2433-2440

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7 January 2020

issue

16

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describes a project that uses

7 January 2020

ImageJ

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11 June 2022

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inferred from PubMed Central ID database lookup

cites work

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

Mitochondrial DNA depletion and dGK gene mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

Sequence and organization of the human mitochondrial genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

Disorders of nuclear-mitochondrial intergenomic communication

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

Biochemical assays of respiratory chain complex activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

Mitochondrial deoxynucleotide pool sizes in mouse liver and evidence for a transport mechanism for thymidine monophosphate

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

In vivo and in organello assessment of OXPHOS activities

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

What regulates mitochondrial DNA copy number in animal cells?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

Selective assays for thymidine kinase 1 and 2 and deoxycytidine kinase and their activities in extracts from human cells and tissues.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115590

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene

2 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN143

Expression of deoxynucleoside kinases and 5'-nucleotidases in mouse tissues: implications for mitochondrial toxicity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN143

Measurements of ATP in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN143

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%2FDDN143

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN143

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN143

Clinical characteristics and muscle pathology in myopathic mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN143

Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN143

Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN143

Reversion of mtDNA depletion in a patient with TK2 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN143

Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN143

Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18467430

12 December 2020

inferred from PubMed ID database lookup

Enzymatic assay for deoxyribonucleoside triphosphates using synthetic oligonucleotides as template primers

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18467430

12 December 2020

inferred from PubMed ID database lookup

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18467430

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDN143

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18467430%20AND%20SRC:MED&resulttype=core&format=json

OpenCitations bibliographic resource ID

7 January 2020

4314950

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4314950

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18467430%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference