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Journal Abstract Search

164 related items for PubMed ID: 16263314

  • 1. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
    Slama A, Giurgea I, Debrey D, Bridoux D, de Lonlay P, Levy P, Chretien D, Brivet M, Legrand A, Rustin P, Munnich A, Rötig A.
    Mol Genet Metab; 2005 Dec; 86(4):462-5. PubMed ID: 16263314
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  • 2. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
    Freisinger P, Fütterer 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, Horváth R.
    Arch Neurol; 2006 Aug; 63(8):1129-34. PubMed ID: 16908739
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  • 3. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
    Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N.
    Nat Genet; 2001 Nov; 29(3):337-41. PubMed ID: 11687800
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  • 4. 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.
    Ann Neurol; 2002 Aug; 52(2):237-9. PubMed ID: 12210798
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  • 5. Mutation analysis in 16 patients with mtDNA depletion.
    Carrozzo R, Bornstein B, Lucioli S, Campos Y, de la Pena P, Petit N, Dionisi-Vici C, Vilarinho L, Rizza T, Bertini E, Garesse R, Santorelli FM, Arenas J.
    Hum Mutat; 2003 Apr; 21(4):453-4. PubMed ID: 12655576
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  • 6. Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.
    Mancuso M, Filosto M, Tsujino S, Lamperti C, Shanske S, Coquet M, Desnuelle C, DiMauro S.
    Arch Neurol; 2003 Oct; 60(10):1445-7. PubMed ID: 14568816
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  • 11. 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.
    Hum Mutat; 2008 Feb; 29(2):330-1. PubMed ID: 18205204
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  • 13. A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.
    Kiliç M, Sivri HS, Dursun A, Tokatli A, De Meirleir L, Seneca S, Akçören Z, Yiğit S, Topaloğlu H, Coşkun T.
    Turk J Pediatr; 2011 Feb; 53(1):79-82. PubMed ID: 21534344
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  • 15. Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction.
    Bortot B, Barbi E, Biffi S, Lunazzi G, Bussani R, Burlina A, Norbedo S, Ventura A, Carrozzi M, Severini GM.
    Dig Liver Dis; 2009 Jul; 41(7):494-9. PubMed ID: 19195941
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  • 16. Depletion of mitochondrial DNA by down-regulation of deoxyguanosine kinase expression in non-proliferating HeLa cells.
    Franco M, Johansson M, Karlsson A.
    Exp Cell Res; 2007 Jul 15; 313(12):2687-94. PubMed ID: 17490647
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