| Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia. | Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.
Guzman H, Yazdani S, Harmon JL, Chapman KA, Vitola B, Pyle L, McKnight H, Sigal W, Lord K, De Leon DD, Merchant N, Ganetzky R., Free PMC Article | 12/4/2023 |
| DGUOK deficiency and mutation is associated with mitochondrial DNA depletion syndromes. | Deoxyguanosine kinase deficiency: a report of four patients.
Ünal Ö, Hişmi B, Kılıç M, Gülşen HH, Coşkun T, Sivri SH, Dursun A, Yüce A, Tokatlı A. | 03/31/2018 |
| rare homozygous p.N46S mutation associated with idiopathic noncirrhotic portal hypertension | Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.
Vilarinho S, Sari S, Yilmaz G, Stiegler AL, Boggon TJ, Jain D, Akyol G, Dalgic B, Günel M, Lifton RP., Free PMC Article | 07/22/2017 |
| 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 . | Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.
Bennett B, Helbling D, Meng H, Jarzembowski J, Geurts AM, Friederich MW, Van Hove JLK, Lawlor MW, Dimmock DP., Free PMC Article | 12/17/2016 |
| sequencing results showed that the patient was a compound heterozygote for c.679G>A and c.817delT in the DGUOK gene | [Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome].
Deng M, Lin WX, Guo L, Zhang ZH, Song YZ., Free PMC Article | 09/17/2016 |
| thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells | Mitochondrial thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells.
Sun R, Eriksson S, Wang L. | 02/21/2015 |
| study expands the spectrum of disorders caused by mutations in DGUOK. | Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M., Free PMC Article | 02/9/2013 |
| Deoxyguanosine kinase gene mutations combined with impaired glucose homeostasis and iron overload features are associated with severe progressive liver failure. | Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
Pronicka E, Węglewska-Jurkiewicz A, Taybert J, Pronicki M, Szymańska-Dębińska T, Karkucińska-Więckowska A, Jakóbkiewicz-Banecka J, Kowalski P, Piekutowska-Abramczuk D, Pajdowska M, Socha P, Sykut-Cegielska J, Węgrzyn G., Free PMC Article | 05/7/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article | 12/5/2010 |
| c.592-4_c.592-3delTT mutation causes exon skipping and is and responsible for the DGUOK deficiency | A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.
Ji JQ, Dimmock D, Tang LY, Descartes M, Gomez R, Rutledge SL, Schmitt ES, Wong LJ. | 06/28/2010 |
| 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. | Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation.
Filosto M, Mancuso M, Tomelleri G, Rizzuto N, Dalla Bernardina B, DiMauro S, Simonati A. | 03/12/2010 |
| a viral infection can trigger fulminant liver failure in the context of a genetic predisposition associated with mutations in DGUOK | Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure.
Shieh JT, Berquist WE, Zhang Q, Chou PC, Wong LJ, Enns GM. | 01/21/2010 |
| 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 | The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rötig A, Bonnefont JP, Lebre AS. | 01/21/2010 |
| dCK and dGK were downregulated by approximately 70% in CEM cells and tested against six nucleoside | RNAi depletion of deoxycytidine and deoxyguanosine kinase in human leukemic CEM cells.
Fyrberg A, Albertioni F, Lotfi K. | 01/21/2010 |
| 15 different mutations in the DGUOK gene from 9 kindreds, were identified. | Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ. | 01/21/2010 |
| DGUOK is required for mitochondrial DNA replication in resting cells and that small changes in expression of this enzyme may cause mitochondrial DNA depletion. | Depletion of mitochondrial DNA by down-regulation of deoxyguanosine kinase expression in non-proliferating HeLa cells.
Franco M, Johansson M, Karlsson A. | 01/21/2010 |
| This study identified 2 novel homozygous mutations, G352A and C269T, that lead to truncated proteins in the hepatocerebral form of mitochondrial DNA depletion syndrome. | New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
Mancuso M, Ferraris S, Pancrudo J, Feigenbaum A, Raiman J, Christodoulou J, Thorburn DR, DiMauro S. | 01/21/2010 |
| deoxycytidine kinase, deoxyguanosine kinase, and cytosolic 5'-nucleotidase I are regulated in a cell cycle-dependent manner in MOLT-4 cells | Cell cycle dependent regulation of deoxycytidine kinase, deoxyguanosine kinase, and cytosolic 5'-nucleotidase I activity in MOLT-4 cells.
Fyrberg A, Mirzaee S, Lotfi K. | 01/21/2010 |
| Data show that inorganic tripolyphosphate (PPP(i)) is a good donor for human ceoxycytidine kinase and deoxyguanosine kinase. | Inorganic tripolyphosphate (PPP(i)) as a phosphate donor for human deoxyribonucleoside kinases.
Krawiec K, Kierdaszuk B, Shugar D. | 01/21/2010 |
| A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. Homozygous nonsense mutation in exon 3 of DGUOK (313C-->T). | A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.
Taanman JW, Kateeb I, Muntau AC, Jaksch M, Cohen N, Mandel H. | 01/21/2010 |
| Low level of mitochondrial deoxyguanosine kinase is the dominant factor in acquired resistance to 9-beta-D-arabinofuranosylguanine cytotoxicity | Low level of mitochondrial deoxyguanosine kinase is the dominant factor in acquired resistance to 9-beta-D-arabinofuranosylguanine cytotoxicity.
Lotfi K, Månsson E, Peterson C, Eriksson S, Albertioni F. | 01/21/2010 |
| DGUOK activity may play a crucial role in the phenotype reversal | Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.
Mousson de Camaret B, Taanman JW, Padet S, Chassagne M, Mayençon M, Clerc-Renaud P, Mandon G, Zabot MT, Lachaux A, Bozon D., Free PMC Article | 01/21/2010 |