(Q28477625)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21483760%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

title

Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21483760%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

0 references

1 reference

mitochondrial neurogastrointestinal encephalomyopathy

1 reference

inferred from title

author

Emiliano Gonzalez-Vioque

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21483760%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Ramon Martí

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21483760%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

author name string

Javier Torres-Torronteras

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21483760%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Antoni L Andreu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21483760%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

language of work or name

English

0 references

publication date

31 March 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21483760%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21483760%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21483760%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21483760%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

page(s)

e1002035

1 reference

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Creative Commons Attribution 4.0 International

28 January 2020

copyright license

start time

31 March 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069123

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

19 March 2017

1 reference

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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=3069123

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=3069123

Ribonucleotide reductase is not limiting for mitochondrial DNA copy number 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=3069123

Regulation by degradation, a cellular defense against deoxyribonucleotide pool imbalances

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069123

Mitochondrial DNA depletion syndromes--many genes, common mechanisms

29 September 2017

1 reference

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Plasma pharmacokinetics and oral bioavailability of the 3,4,5,6-tetrahydrouridine (THU) prodrug, triacetyl-THU (taTHU), in mice.

29 September 2017

1 reference

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Quantitation of cellular deoxynucleoside triphosphates

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069123

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069123

Ribonucleotide reduction is a cytosolic process in mammalian cells independently of DNA damage

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069123

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=3069123

Allogeneic stem cell transplantation corrects biochemical derangements in 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=3069123

Identification of the mitochondrial targeting signal of the human equilibrative nucleoside transporter 1 (hENT1): implications for interspecies differences in mitochondrial toxicity of fialuridine

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069123

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=3069123

Mitochondrial expression of the human equilibrative nucleoside transporter 1 (hENT1) results in enhanced mitochondrial toxicity of antiviral drugs.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069123

Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase 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=3069123

Cloning and characterization of full-length mouse thymidine kinase 2: the N-terminal sequence directs import of the precursor protein into mitochondria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069123

Highly efficient DNA synthesis in isolated mitochondria from rat liver.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069123

Differential regulation of full-length genome and a single-stranded 7S DNA along the cell cycle in human mitochondria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069123

Effects of Thymidine on Deoxyribonucleoside Triphosphate Pools and Deoxyribonucleic Acid Synthesis in Chinese Hamster Ovary Cells

2 June 2018

1 reference

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Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA.

2 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002035

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/10.1371%2FJOURNAL.PGEN.1002035

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/10.1371%2FJOURNAL.PGEN.1002035

Characterization of a dCTP transport activity reconstituted from human mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002035

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002035

Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002035

Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells

21 January 2018

1 reference

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Peginterferon alpha-2b plus ribavirin vs interferon alpha-2b plus ribavirin for chronic hepatitis C in HIV-coinfected patients

21 January 2018

1 reference

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Adenine Nucleotide Translocation of Mitochondria. 1. Specificity and Control

21 January 2018

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12 December 2020

Kinetics and specificity of the adenine nucleotide translocation in rat liver mitochondria

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12 December 2020

Mitochondrial DNA Depletion and Thymidine Phosphate Pool Dynamics in a Cellular Model of Mitochondrial Neurogastrointestinal Encephalomyopathy

1 reference

12 December 2020

Analysis of replicating mitochondrial DNA by two-dimensional agarose gel electrophoresis

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1002035

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21483760%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21483760%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference