| 1 | DGUOK, MDDS1
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| The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
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| 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.
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| Mol Genet Metab 97(3):221-6. Epub 2009 Mar 27.
2009
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| 2 | DGUOK, MDDS1
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| Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
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| 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.
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| Hum Mutat 29(2):330-1. 2008
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| 3 | DGUOK
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| Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.
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| Mousson de Camaret B, Taanman JW, Padet S, Chassagne M, Mayencon M, Clerc-Renaud P, Mandon G, Zabot MT, Lachaux A, Bozon D.
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| Biochem J 402(2):377-85. 2007
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| 4 | DGUOK, MDDS1
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| Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
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| Freisinger P, Fźtterer N, Lankes E, Gempel K, Berger TM, Spalinger J, Hoerbe A, Schwantes C, Lindner M, Santer R, Burdelski M, Schaefer H, Setzer B, Walker UA, Horv‡th R.
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| Arch Neurol 63(8):1129-34. 2006
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| 5 | DGUOK, TK2, MDDS1, MDDS2
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| Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.
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| Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M, Eriksson S.
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| Mol Genet Metab 84(1):75-82. 2005
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| 6 | DGUOK, MDDS1
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| Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.
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| Tadiboyina VT, Rupar A, Atkison P, Feigenbaum A, Kronick J, Wang J, Hegele RA.
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| Am J Med Genet A 135(3):289-91. 2005
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| 7 | DGUOK, MDDS1
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| Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
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| Slama A, Giurgea I, Debrey D, Bridoux D, de Lonlay P, Levy P, Chretien D, Brivet M, Legrand A, Rustin P, Munnich A, Rotig A.
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| Mol Genet Metab 86(4):462-5. Epub 2005 Nov 2. 2005
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| 8 | DGUOK, MDDS1
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| New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
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| Mancuso M, Ferraris S, Pancrudo J, Feigenbaum A, Raiman J, Christodoulou J, Thorburn DR, DiMauro S.
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| Arch Neurol 62(5):745-7. 2005
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| 9 | TK2, DGUOK, MDDS1, MDDS2
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| Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
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| Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S.
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| Arch Neurol 60(7):1007-9. 2003
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| 10 | DGUOK
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| Nuclear localization of diacylglycerol kinase zeta in neurons.
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| Hozumi Y, Ito T, Nakano T, Nakagawa T, Aoyagi M, Kondo H, Goto K.
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| Eur J Neurosci 18(6):1448-57. 2003
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| 11 | DGUOK, MDDS1
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| A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.
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| Taanman JW, Kateeb I, Muntau AC, Jaksch M, Cohen N, Mandel H.
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| Ann Neurol 52(2):237-9. 2002
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| 12 | DGUOK, MDDS1
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| Identification and characterization of human deoxyguanosine kinase cDNA fragments.
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| Mansson E, Jonsson K, Albertioni F.
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| Cancer Lett 170(2):147-52. 2001
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| 13 | DGUOK, MDDS1
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| Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.
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| Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O.
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| Nat Genet 29(3):342-4. 2001
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| 14 | DGUOK
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| Mitochondrial and submitochondrial localization of human deoxyguanosine kinase.
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| Jullig M, Eriksson S.
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| Eur J Biochem 267(17):5466-72. 2000
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| 15 | DGUOK
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| Localization of the human deoxyguanosine kinase gene (DGUOK) to chromosome 2p13.
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| Johansson M, et al.
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| Genomics 38 : 450-451. 1996
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