Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice (Q37090114)

18 August 2017

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

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18 August 2017

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Luis C López

1

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18 August 2017

Hasan O Akman

2

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18 August 2017

Angeles García-Cazorla

3

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18 August 2017

Beatriz Dorado

4

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18 August 2017

Ramón Martí

5

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18 August 2017

Ichizo Nishino

6

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18 August 2017

Saba Tadesse

7

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18 August 2017

Giuseppe Pizzorno

8

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18 August 2017

Dikoma Shungu

9

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18 August 2017

Eduardo Bonilla

10

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18 August 2017

Kurenai Tanji

11

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18 August 2017

Michio Hirano

12

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18 August 2017

21 November 2008

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18 August 2017

Human Molecular Genetics

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18 August 2017

18

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18 August 2017

714-722

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describes a project that uses

18 August 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2638828/fullTextXML

inferred from PubMed Central ID database lookup

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

29 September 2017

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

29 September 2017

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29 September 2017

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

29 September 2017

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29 September 2017

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Abnormalities in uridine homeostatic regulation and pyrimidine nucleotide metabolism as a consequence of the deletion of the uridine phosphorylase gene

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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A chemical enucleation method for the transfer of mitochondrial DNA to rho(o) cells

29 September 2017

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29 September 2017

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

29 September 2017

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Pharmacokinetics and organ distribution of N-methanocarbathymidine, a novel thymidine analog, in mice bearing tumors transduced with the herpes simplex thymidine kinase gene

29 September 2017

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Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice

29 September 2017

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In vivo and in organello assessment of OXPHOS activities

29 September 2017

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Neuropathological features of mitochondrial disorders

29 September 2017

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Altered thymidine metabolism due to defects of thymidine phosphorylase

29 September 2017

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

29 September 2017

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

29 September 2017

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

29 September 2017

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International Commission for Protection Against Environmental Mutagens and Carcinogens. Deoxyribonucleoside triphosphate levels: a critical factor in the maintenance of genetic stability

29 September 2017

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Phenotypic variability in a Spanish family with MNGIE.

29 September 2017

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27 June 2018

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

27 June 2018

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Mutations in mitochondrial-encoded cytochrome c oxidase subunits I, II, and III genes detected in Alzheimer's disease using single-strand conformation polymorphism

3 September 2018

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

3 September 2018

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

3 September 2018

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Increased blood-brain barrier permeability with thymidine phosphorylase deficiency

3 September 2018

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Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays

3 September 2018

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

3 September 2018

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Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA.

3 September 2018

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Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency

3 September 2018

1 reference

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Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome

3 September 2018

1 reference

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

3 September 2018

1 reference

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The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDN401

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19028666

12 December 2020

inferred from PubMed ID database lookup

Mutagenesis in Escherichia coli. II. Evidence for a common pathway for mutagenesis by ultraviolet light, ionizing radiation and thymine deprivation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19028666

12 December 2020

inferred from PubMed ID database lookup

Kearns-sayre syndrome: oncocytic transformation of choroid plexus epithelium

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19028666

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDN401

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

19028666

1 reference