Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (Q28477625)

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28 January 2020

title

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

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28 January 2020

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1 reference

mitochondrial neurogastrointestinal encephalomyopathy

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inferred from title

author

Emiliano Gonzalez-Vioque

1

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28 January 2020

Ramon Martí

4

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28 January 2020

author name string

Javier Torres-Torronteras

2

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28 January 2020

Antoni L Andreu

3

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28 January 2020

language of work or name

English

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publication date

31 March 2011

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28 January 2020

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28 January 2020

volume

7

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28 January 2020

issue

3

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28 January 2020

page(s)

e1002035

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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

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cites work

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

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Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

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

19 March 2017

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

19 March 2017

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Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice

19 March 2017

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

29 September 2017

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29 September 2017

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29 September 2017

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Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

29 September 2017

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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

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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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29 September 2017

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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

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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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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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12 December 2020

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

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Identifiers

DOI

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28 January 2020

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