Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (Q40425795)

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

20 September 2017

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

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PubMed publication ID

20 September 2017

mitochondrial neurogastrointestinal encephalomyopathy

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based on heuristic

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author name string

Paola Ferraro

1

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Europe PubMed Central

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20 September 2017

Giovanna Pontarin

2

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20 September 2017

Laura Crocco

3

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20 September 2017

Sonia Fabris

4

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20 September 2017

Peter Reichard

5

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20 September 2017

Vera Bianchi

6

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20 September 2017

language of work or name

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publication date

5 May 2005

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20 September 2017

Journal of Biological Chemistry

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20 September 2017

280

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20 September 2017

26

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20 September 2017

24472-24480

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20 September 2017

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans

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Nuclear genes in mitochondrial disorders.

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Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expression

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Mitochondrial deoxyribonucleotides, pool sizes, synthesis, and regulation

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21 January 2018

Origins of mitochondrial thymidine triphosphate: Dynamic relations to cytosolic pools

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21 January 2018

Interactions between deoxyribonucleotide and DNA synthesis

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The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals

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Cloning of the cDNA and chromosome localization of the gene for human thymidine kinase 2

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Cytosolic high K(m) 5'-nucleotidase and 5'(3')-deoxyribonucleotidase in substrate cycles involved in nucleotide metabolism

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

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Altered thymidine metabolism due to defects of thymidine phosphorylase

1 reference

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Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency

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Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

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Cloning and expression of human deoxyguanosine kinase cDNA

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

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

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Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA.

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20 Cell synchronization

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Identifiers

10.1074/JBC.M502869200

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

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