anti-Deoxyguanosine Kinase (DGUOK) Antikörper

Human Deoxyguanosine Kinase (DGUOK) Interaktionspartner

1. DGUOK deficiency and mutation is associated with mitochondrial DNA depletion syndromes.

2. rare homozygous p.N46S mutation associated with idiopathic noncirrhotic portal hypertension

3. The goals of this work are to characterize the DGUOK rat in terms of mitochondrial dysfunction and pathological outcome, and to evaluate EPR as a new and additional technique in an integrated characterization of mitochondrial disease .

4. sequencing results showed that the patient was a compound heterozygote for c.679G>A and c.817delT in the DGUOK gene

5. thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells

6. study expands the spectrum of disorders caused by mutations in DGUOK.

7. Deoxyguanosine kinase gene mutations combined with impaired glucose homeostasis and iron overload features are associated with severe progressive liver failure.

8. c.592-4_c.592-3delTT mutation causes exon skipping and is and responsible for the DGUOK deficiency

9. Neurological symptoms appeared later and were mild, in agreement with the limited brain pathology. Molecular analysis of the dGK gene should be performed in infants with cirrhosis even in the absence of CNS involvement.

10. Low level of mitochondrial deoxyguanosine kinase is the dominant factor in acquired resistance to 9-beta-D-arabinofuranosylguanine cytotoxicity

11. A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. Homozygous nonsense mutation in exon 3 of DGUOK (313C-->T).

12. Data show that inorganic tripolyphosphate (PPP(i)) is a good donor for human ceoxycytidine kinase and deoxyguanosine kinase.

13. This study identified 2 novel homozygous mutations, G352A and C269T, that lead to truncated proteins in the hepatocerebral form of mitochondrial DNA depletion syndrome.

14. deoxycytidine kinase, deoxyguanosine kinase, and cytosolic 5'-nucleotidase I are regulated in a cell cycle-dependent manner in MOLT-4 cells

15. DGUOK activity may play a crucial role in the phenotype reversal

16. DGUOK is required for mitochondrial DNA replication in resting cells and that small changes in expression of this enzyme may cause mitochondrial DNA depletion.

17. 15 different mutations in the DGUOK gene from 9 kindreds, were identified.

18. dCK and dGK were downregulated by approximately 70% in CEM cells and tested against six nucleoside

19. study reports the first founder DGUOK mutation (c.444-62C>A) in two North-African families with hepatocerebral syndrome and severe combined respiratory chain deficiency

20. a viral infection can trigger fulminant liver failure in the context of a genetic predisposition associated with mutations in DGUOK

Mouse (Murine) Deoxyguanosine Kinase (DGUOK) Interaktionspartner

1. thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells