(Q36003289)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

mitochondrial neurogastrointestinal encephalomyopathy

1 January 2020

main subject

1 reference

inferred from title

author

Maria Lucia Valentino

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Ramon Martí

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Luis C. López

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Valerio Carelli

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Saba Tadesse

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Jose L Manes

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Judy Lyzak

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Angelika Hahn

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Michio Hirano

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

language of work or name

English

0 references

publication date

27 June 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

581

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

issue

18

1 reference

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1 January 2020

page(s)

3410-3414

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

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

1 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Mitochondrial deoxyribonucleotides, pool sizes, synthesis, and regulation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Origins of mitochondrial thymidine triphosphate: Dynamic relations to cytosolic pools

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

The enzymatic synthesis of nucleosides. I. Thymidine phosphorylase in mammalian tissue.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Homeostatic control of uridine and the role of uridine phosphorylase: a biological and clinical update

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Altered thymidine metabolism due to defects of thymidine phosphorylase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Tissue distribution of human gliostatin/platelet-derived endothelial cell growth factor (PD-ECGF) and its drug-induced expression

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Measurement of protein using bicinchoninic acid

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Localization of platelet-derived endothelial cell growth factor in human placenta and purification of an alternatively processed form.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Organization and chromosomal localization of the human platelet-derived endothelial cell growth factor gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Thymidine phosphorylase, 2-deoxy-D-ribose and angiogenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986782

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase

23 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2007.06.042

Platelet-derived endothelial cell growth factor/thymidine phosphorylase expression in normal tissues: An immunohistochemical study

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2007.06.042

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

21 January 2018

1 reference

12 December 2020

Pharmacokinetic studies during phase I trials of high-dose thymidine infusions

1 reference

12 December 2020

Purification and tissue distribution of human thymidine phosphorylase; high expression in lymphocytes, reticulocytes and tumors

1 reference

12 December 2020

Differences in activities and substrate specificity of human and murine pyrimidine nucleoside phosphorylases: implications for chemotherapy with 5-fluoropyrimidines

1 reference

12 December 2020

Neurons of the peripheral nervous system express thymidine phosphorylase

1 reference

12 December 2020

10.1016/J.FEBSLET.2007.06.042

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17612528%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference