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DGUOK deficiency and mutation is associated with mitochondrial DNA depletion syndromes.
The goals of this work are to characterize the DGUOK rat in terms of mitochondrial dysfunction and pathological outcome, and to evaluate EPR (show EREG Proteins) as a new and additional technique in an integrated characterization of mitochondrial disease .
sequencing results showed that the patient was a compound heterozygote for c.679G>A and c.817delT in the DGUOK gene
thymidine kinase (show TK1 Proteins) 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells
study expands the spectrum of disorders caused by mutations in DGUOK.
Deoxyguanosine kinase gene mutations combined with impaired glucose homeostasis and iron overload features are associated with severe progressive liver failure.
c.592-4_c.592-3delTT mutation causes exon skipping and is and responsible for the DGUOK deficiency
Neurological symptoms appeared later and were mild, in agreement with the limited brain pathology. Molecular analysis of the dGK (show DGKB Proteins) gene should be performed in infants with cirrhosis even in the absence of CNS involvement.
Low level of mitochondrial deoxyguanosine kinase is the dominant factor in acquired resistance to 9-beta-D-arabinofuranosylguanine cytotoxicity
A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. Homozygous nonsense mutation in exon 3 of DGUOK (313C-->T).
In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene.
, deoxyguanosine kinase, mitochondrial