505 related articles for article (PubMed ID: 18753147)
1. The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.
Sasarman F; Antonicka H; Shoubridge EA
Hum Mol Genet; 2008 Dec; 17(23):3697-707. PubMed ID: 18753147
[TBL] [Abstract][Full Text] [Related]
2. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.
Antonicka H; Sasarman F; Kennaway NG; Shoubridge EA
Hum Mol Genet; 2006 Jun; 15(11):1835-46. PubMed ID: 16632485
[TBL] [Abstract][Full Text] [Related]
3. The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons.
Janssen GM; Hensbergen PJ; van Bussel FJ; Balog CI; Maassen JA; Deelder AM; Raap AK
Hum Mol Genet; 2007 Oct; 16(20):2472-81. PubMed ID: 17656376
[TBL] [Abstract][Full Text] [Related]
4. Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.
Kirino Y; Yasukawa T; Marjavaara SK; Jacobs HT; Holt IJ; Watanabe K; Suzuki T
Hum Mol Genet; 2006 Mar; 15(6):897-904. PubMed ID: 16446307
[TBL] [Abstract][Full Text] [Related]
5. The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation.
Park H; Davidson E; King MP
Biochemistry; 2003 Feb; 42(4):958-64. PubMed ID: 12549915
[TBL] [Abstract][Full Text] [Related]
6. Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree.
Dubeau F; De Stefano N; Zifkin BG; Arnold DL; Shoubridge EA
Ann Neurol; 2000 Feb; 47(2):179-85. PubMed ID: 10665488
[TBL] [Abstract][Full Text] [Related]
7. Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS-associated mutations.
Hao R; Yao YN; Zheng YG; Xu MG; Wang ED
FEBS Lett; 2004 Dec; 578(1-2):135-9. PubMed ID: 15581630
[TBL] [Abstract][Full Text] [Related]
8. Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease.
Kirino Y; Yasukawa T; Ohta S; Akira S; Ishihara K; Watanabe K; Suzuki T
Proc Natl Acad Sci U S A; 2004 Oct; 101(42):15070-5. PubMed ID: 15477592
[TBL] [Abstract][Full Text] [Related]
9. [Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the A3243G mutation of the tRNALeu(UUR) gene of mtDNA in native American haplogroup B2].
Delgado-Sánchez R; Zárate-Moysen A; Monsalvo-Reyes A; Herrero MD; Ruiz-Pesini E; López-Pérez M; Montoya J; Montiel-Sosa JF
Rev Neurol; 2007 Jan 1-15; 44(1):18-22. PubMed ID: 17199225
[TBL] [Abstract][Full Text] [Related]
10. The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.
Chomyn A; Enriquez JA; Micol V; Fernandez-Silva P; Attardi G
J Biol Chem; 2000 Jun; 275(25):19198-209. PubMed ID: 10858457
[TBL] [Abstract][Full Text] [Related]
11. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
Smeitink JA; Elpeleg O; Antonicka H; Diepstra H; Saada A; Smits P; Sasarman F; Vriend G; Jacob-Hirsch J; Shaag A; Rechavi G; Welling B; Horst J; Rodenburg RJ; van den Heuvel B; Shoubridge EA
Am J Hum Genet; 2006 Nov; 79(5):869-77. PubMed ID: 17033963
[TBL] [Abstract][Full Text] [Related]
12. Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease.
Yasukawa T; Suzuki T; Ishii N; Ohta S; Watanabe K
EMBO J; 2001 Sep; 20(17):4794-802. PubMed ID: 11532943
[TBL] [Abstract][Full Text] [Related]
13. A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
Sato W; Hayasaka K; Shoji Y; Takahashi T; Takada G; Saito M; Fukawa O; Wachi E
Biochem Mol Biol Int; 1994 Aug; 33(6):1055-61. PubMed ID: 7804130
[TBL] [Abstract][Full Text] [Related]
14. The yeast counterparts of human 'MELAS' mutations cause mitochondrial dysfunction that can be rescued by overexpression of the mitochondrial translation factor EF-Tu.
Feuermann M; Francisci S; Rinaldi T; De Luca C; Rohou H; Frontali L; Bolotin-Fukuhara M
EMBO Rep; 2003 Jan; 4(1):53-8. PubMed ID: 12524521
[TBL] [Abstract][Full Text] [Related]
15. Analyzing the suppression of respiratory defects in the yeast model of human mitochondrial tRNA diseases.
Montanari A; Zhou YF; D'Orsi MF; Bolotin-Fukuhara M; Frontali L; Francisci S
Gene; 2013 Sep; 527(1):1-9. PubMed ID: 23727608
[TBL] [Abstract][Full Text] [Related]
16. Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA.
Thajeb P; Lee HC; Pang CY; Jeng CM; Huang SF; Wei YH
Zhonghua Yi Xue Za Zhi (Taipei); 2000 Jan; 63(1):71-6. PubMed ID: 10645055
[TBL] [Abstract][Full Text] [Related]
17. Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.
Kirino Y; Goto Y; Campos Y; Arenas J; Suzuki T
Proc Natl Acad Sci U S A; 2005 May; 102(20):7127-32. PubMed ID: 15870203
[TBL] [Abstract][Full Text] [Related]
18. Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes.
Li R; Guan MX
Mol Cell Biol; 2010 May; 30(9):2147-54. PubMed ID: 20194621
[TBL] [Abstract][Full Text] [Related]
19. Activation of the mitochondrial protein quality control system and actin cytoskeletal alterations in cells harbouring the MELAS mitochondrial DNA mutation.
Felk S; Ohrt S; Kussmaul L; Storch A; Gillardon F
J Neurol Sci; 2010 Aug; 295(1-2):46-52. PubMed ID: 20570288
[TBL] [Abstract][Full Text] [Related]
20. Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases.
Mkaouar-Rebai E; Tlili A; Masmoudi S; Belguith N; Charfeddine I; Mnif M; Triki C; Fakhfakh F
Biochem Biophys Res Commun; 2007 Apr; 355(4):1031-7. PubMed ID: 17336924
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]