324 related articles for article (PubMed ID: 26773591)
1. 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 Radic Biol Med; 2016 Mar; 92():141-151. PubMed ID: 26773591
[TBL] [Abstract][Full Text] [Related]
2. Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.
Yamazaki T; Murayama K; Compton AG; Sugiana C; Harashima H; Amemiya S; Ajima M; Tsuruoka T; Fujinami A; Kawachi E; Kurashige Y; Matsushita K; Wakiguchi H; Mori M; Iwasa H; Okazaki Y; Thorburn DR; Ohtake A
Pediatr Int; 2014 Apr; 56(2):180-7. PubMed ID: 24266892
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.
Cámara Y; González-Vioque E; Scarpelli M; Torres-Torronteras J; Caballero A; Hirano M; Martí R
Hum Mol Genet; 2014 May; 23(9):2459-67. PubMed ID: 24362886
[TBL] [Abstract][Full Text] [Related]
8. 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]
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. Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome.
Wang L; Eriksson S
FEBS Lett; 2003 Nov; 554(3):319-22. PubMed ID: 14623087
[TBL] [Abstract][Full Text] [Related]
11. Depletion of mtDNA: syndromes and genes.
Alberio S; Mineri R; Tiranti V; Zeviani M
Mitochondrion; 2007; 7(1-2):6-12. PubMed ID: 17280874
[TBL] [Abstract][Full Text] [Related]
12. [Diagnostic investigations of mitochondrial diseases with neurological symptoms].
Auré K; Lombès A
Rev Neurol (Paris); 2007 Feb; 163(2):254-63. PubMed ID: 17351548
[TBL] [Abstract][Full Text] [Related]
13. Detection of Redox Imbalance in Normal Lymphocytes with Induced Mitochondrial Dysfunction - EPR Study.
Georgieva E; Zhelev Z; Aoki I; Bakalova R; Higashi T
Anticancer Res; 2016 Oct; 36(10):5273-5279. PubMed ID: 27798888
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Mitochondrial dysfunction in a novel form of autosomal recessive ataxia.
Murad NA; Cullen JK; McKenzie M; Ryan MT; Thorburn D; Gueven N; Kobayashi J; Birrell G; Yang J; Dörk T; Becherel O; Grattan-Smith P; Lavin MF
Mitochondrion; 2013 May; 13(3):235-45. PubMed ID: 23178371
[TBL] [Abstract][Full Text] [Related]
17. Severe mtDNA depletion and dependency on catabolic lipid metabolism in DGUOK knockout mice.
Zhou X; Curbo S; Zhao Q; Krishnan S; Kuiper R; Karlsson A
Hum Mol Genet; 2019 Sep; 28(17):2874-2884. PubMed ID: 31127938
[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. [Mitochondrial diseases. Clinical features, investigation and genetics].
Østergaard E; Wibrand F; Horn N; Brøndum-Nielsen K
Ugeskr Laeger; 2003 Feb; 165(7):663-8. PubMed ID: 12617042
[TBL] [Abstract][Full Text] [Related]
20. Evaluation of gastrointestinal mtDNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Giordano C; d'Amati G
Methods Mol Biol; 2011; 755():223-32. PubMed ID: 21761307
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
