152 related articles for article (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
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
7. 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
Biochem J; 2007 Mar; 402(2):377-85. PubMed ID: 17073823
[TBL] [Abstract][Full Text] [Related]
8. 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
Arch Neurol; 2005 May; 62(5):745-7. PubMed ID: 15883261
[TBL] [Abstract][Full Text] [Related]
9. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
Elpeleg O; Mandel H; Saada A
J Mol Med (Berl); 2002 Jul; 80(7):389-96. PubMed ID: 12110944
[TBL] [Abstract][Full Text] [Related]
10. 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
Mol Genet Metab; 2009 Jul; 97(3):221-6. PubMed ID: 19394258
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
12. Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.
Tadiboyina VT; Rupar A; Atkison P; Feigenbaum A; Kronick J; Wang J; Hegele RA
Am J Med Genet A; 2005 Jun; 135(3):289-91. PubMed ID: 15887277
[TBL] [Abstract][Full Text] [Related]
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; 53(1):79-82. PubMed ID: 21534344
[TBL] [Abstract][Full Text] [Related]
14. Novel deoxyguanosine kinase gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
Sezer T; Ozçay F; Balci O; Alehan F
J Child Neurol; 2015 Jan; 30(1):124-8. PubMed ID: 24423689
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
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; 313(12):2687-94. PubMed ID: 17490647
[TBL] [Abstract][Full Text] [Related]
17. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.
Oskoui M; Davidzon G; Pascual J; Erazo R; Gurgel-Giannetti J; Krishna S; Bonilla E; De Vivo DC; Shanske S; DiMauro S
Arch Neurol; 2006 Aug; 63(8):1122-6. PubMed ID: 16908738
[TBL] [Abstract][Full Text] [Related]
18. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.
Sarzi E; Bourdon A; Chrétien D; Zarhrate M; Corcos J; Slama A; Cormier-Daire V; de Lonlay P; Munnich A; Rötig A
J Pediatr; 2007 May; 150(5):531-4, 534.e1-6. PubMed ID: 17452231
[TBL] [Abstract][Full Text] [Related]
19. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.
Labarthe F; Dobbelaere D; Devisme L; De Muret A; Jardel C; Taanman JW; Gottrand F; Lombès A
J Hepatol; 2005 Aug; 43(2):333-41. PubMed ID: 15964659
[TBL] [Abstract][Full Text] [Related]
20. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency.
Dimmock DP; Dunn JK; Feigenbaum A; Rupar A; Horvath R; Freisinger P; Mousson de Camaret B; Wong LJ; Scaglia F
Liver Transpl; 2008 Oct; 14(10):1480-5. PubMed ID: 18825706
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
