(Q43423091)

English

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.

scientific article published on 20 December 2013

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

23 November 2017

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6281351&resulttype=core&format=json

13 May 2020

mitochondrial DNA

0 references

1 reference

based on heuristic

inferred from title

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6281351&resulttype=core&format=json

13 May 2020

Yolanda Cámara

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6281351&resulttype=core&format=json

13 May 2020

Emiliano Gonzalez-Vioque

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6281351&resulttype=core&format=json

13 May 2020

Javier Torres-Torronteras

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6281351&resulttype=core&format=json

13 May 2020

Andrea Caballero

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6281351&resulttype=core&format=json

13 May 2020

author name string

Mauro Scarpelli

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6281351&resulttype=core&format=json

13 May 2020

Michio Hirano

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6281351&resulttype=core&format=json

13 May 2020

publication date

20 December 2013

1 reference

Europe PubMed Central

PubMed publication ID

23 November 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6281351&resulttype=core&format=json

13 May 2020

23

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6281351&resulttype=core&format=json

13 May 2020

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6281351&resulttype=core&format=json

13 May 2020

2459-2467

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6281351&resulttype=core&format=json

13 May 2020

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

Prodrugs of phosphates and phosphonates

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

Cellular function and molecular structure of ecto-nucleotidases.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

Forodesine: review of preclinical and clinical data

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT641

21 January 2018

Purine nucleoside phosphorylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/24362886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deoxycytidine therapy in two patients with adenosine deaminase deficiency and severe immunodeficiency disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/24362886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24362886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDT641

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6281351&resulttype=core&format=json

13 May 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6281351&resulttype=core&format=json

13 May 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6281351&resulttype=core&format=json

13 May 2020

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