(Q46413898)

22 December 2017

title

Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency (English)

1 reference

22 December 2017

author

Ann Saada

series ordinal

1

1 reference

22 December 2017

publication date

23 August 2008

1 reference

22 December 2017

Molecular Genetics and Metabolism

published in

1 reference

22 December 2017

volume

95

1 reference

22 December 2017

issue

3

1 reference

22 December 2017

page(s)

169-173

1 reference

22 December 2017

cites work

Mitochondrial medicine

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Inherited mitochondrial DNA depletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Inherited mitochondrial diseases of DNA replication

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Deoxyribonucleotides and disorders of mitochondrial DNA integrity.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Maintaining precursor pools for mitochondrial DNA replication

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Structure and function of cellular deoxyribonucleoside kinases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Activity profiles of deoxynucleoside kinases and 5'-nucleotidases in cultured adipocytes and myoblastic cells: insights into mitochondrial toxicity of nucleoside analogs

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Mitochondrial DNA depletion and dGK gene mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Selective assays for thymidine kinase 1 and 2 and deoxycytidine kinase and their activities in extracts from human cells and tissues.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Metabolic interrelations within guanine deoxynucleotide pools for mitochondrial and nuclear DNA maintenance.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Biochemical assays for mitochondrial activity: assays of TCA cycle enzymes and PDHc

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Enzymatic assay for deoxyribonucleoside triphosphates using synthetic oligonucleotides as template primers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Biochemical and molecular investigations in respiratory chain deficiencies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Cloning and expression of human mitochondrial deoxyguanosine kinase cDNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Quantification of total mitochondrial DNA and the 4977-bp common deletion in Pearson's syndrome lymphoblasts using a fluorogenic 5'-nuclease (TaqMan) real-time polymerase chain reaction assay and plasmid external calibration standards.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Altered thymidine metabolism due to defects of thymidine phosphorylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

DNA precursor asymmetries in mammalian tissue mitochondria and possible contribution to mutagenesis through reduced replication fidelity.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.07.007

10.1016/J.YMGME.2008.07.007

7 January 2021

Identifiers

DOI

1 reference

22 December 2017

1 reference

22 December 2017