135 related articles for article (PubMed ID: 22622127)
1. Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.
Buchaklian AH; Helbling D; Ware SM; Dimmock DP
Mol Genet Metab; 2012 Sep; 107(1-2):92-4. PubMed ID: 22622127
[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. Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts.
Taanman JW; Muddle JR; Muntau AC
Hum Mol Genet; 2003 Aug; 12(15):1839-45. PubMed ID: 12874104
[TBL] [Abstract][Full Text] [Related]
4. Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.
Hanchard NA; Shchelochkov OA; Roy A; Wiszniewska J; Wang J; Popek EJ; Karpen S; Wong LJ; Scaglia F
Mol Genet Metab; 2011 Jul; 103(3):262-7. PubMed ID: 21478040
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
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. In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.
Bulst S; Abicht A; Holinski-Feder E; Müller-Ziermann S; Koehler U; Thirion C; Walter MC; Stewart JD; Chinnery PF; Lochmüller H; Horvath R
Hum Mol Genet; 2009 May; 18(9):1590-9. PubMed ID: 19221117
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Navarro-Sastre A; Tort F; Garcia-Villoria J; Pons MR; Nascimento A; Colomer J; Campistol J; Yoldi ME; López-Gallardo E; Montoya J; Unceta M; Martinez MJ; Briones P; Ribes A
Mol Genet Metab; 2012 Nov; 107(3):409-15. PubMed ID: 22980518
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.
Vanden Avond MA; Meng H; Beatka MJ; Helbling DC; Prom MJ; Sutton JL; Slick RA; Dimmock DP; Pertusati F; Serpi M; Pileggi E; Crutcher P; Thomas S; Lawlor MW
J Inherit Metab Dis; 2021 Mar; 44(2):492-501. PubMed ID: 33368311
[TBL] [Abstract][Full Text] [Related]
15. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.
Wang L; Limongelli A; Vila MR; Carrara F; Zeviani M; Eriksson S
Mol Genet Metab; 2005 Jan; 84(1):75-82. PubMed ID: 15639197
[TBL] [Abstract][Full Text] [Related]
16. Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency.
Saada A
Mol Genet Metab; 2008 Nov; 95(3):169-73. PubMed ID: 18723380
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Haudry C; de Lonlay P; Malan V; Bole-Feysot C; Assouline Z; Pruvost S; Brassier A; Bonnefont JP; Munnich A; Rötig A; Lebre AS
Mol Genet Metab; 2012 Dec; 107(4):700-4. PubMed ID: 23141463
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
