(Q46156686)

20 December 2017

title

Unchanged thymidine triphosphate pools and thymidine metabolism in two lines of thymidine kinase 2-mutated fibroblasts (English)

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20 December 2017

author

Ramon Martí

6

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20 December 2017

author name string

Miriam Frangini

1

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20 December 2017

Chiara Rampazzo

2

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20 December 2017

Elisa Franzolin

3

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20 December 2017

Mari-Carmen Lara

4

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20 December 2017

Maya R Vilà

5

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20 December 2017

Vera Bianchi

7

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20 December 2017

language of work or name

English

0 references

publication date

16 January 2009

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20 December 2017

published in

FEBS Journal

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20 December 2017

volume

276

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20 December 2017

issue

4

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20 December 2017

page(s)

1104-1113

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20 December 2017

Inherited mitochondrial diseases of DNA replication

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

Mouse ribonucleotide reductase R2 protein: a new target for anaphase-promoting complex-Cdh1-mediated proteolysis

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

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

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

Reversion of mtDNA depletion in a patient with TK2 deficiency

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

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

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

Mitochondrial thymidine kinase and the enzymatic network regulating thymidine triphosphate pools in cultured human cells

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

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

21 January 2018

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Regulation of pyrimidine deoxyribonucleotide metabolism by substrate cycles in dCMP deaminase-deficient V79 hamster cells

21 January 2018

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Interactions between deoxyribonucleotide and DNA synthesis

21 January 2018

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Mammalian 5'-nucleotidases.

21 January 2018

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Origins of mitochondrial thymidine triphosphate: Dynamic relations to cytosolic pools

21 January 2018

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p53R2-dependent ribonucleotide reduction provides deoxyribonucleotides in quiescent human fibroblasts in the absence of induced DNA damage.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

5'-Nucleotidases: specific assays for five different enzymes in cell extracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2008.06853.X

10.1111/J.1742-4658.2008.06853.X

21 January 2018

Identifiers

DOI

1 reference

20 December 2017

PubMed ID

19154348

1 reference

20 December 2017