328 related articles for article (PubMed ID: 23582502)
1. MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene.
Goto M; Komaki H; Saito T; Saito Y; Nakagawa E; Sugai K; Sasaki M; Nishino I; Goto Y
Brain Dev; 2014 Feb; 36(2):180-2. PubMed ID: 23582502
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. [MELAS (mitochondrial myopathy, encephalopathy lactic acidosis, and stroke-like episodes): clinical features and mitochondrial DNA mutations].
Goto Y
Nihon Rinsho; 1993 Sep; 51(9):2373-8. PubMed ID: 8411715
[TBL] [Abstract][Full Text] [Related]
4. A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
Goto Y; Tsugane K; Tanabe Y; Nonaka I; Horai S
Biochem Biophys Res Commun; 1994 Aug; 202(3):1624-30. PubMed ID: 7520241
[TBL] [Abstract][Full Text] [Related]
5. Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T).
Shaag A; Saada A; Steinberg A; Navon P; Elpeleg ON
Biochem Biophys Res Commun; 1997 Apr; 233(3):637-9. PubMed ID: 9168904
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. [Comparison of clinical pictures of mitochondrial encephalomyopathy with tRNA(Leu(UUR)) mutation in 3243 with that in 3254].
Mitsuoka T; Kawarai T; Watanabe C; Katayama S; Nakamura S
No To Shinkei; 1998 Dec; 50(12):1089-92. PubMed ID: 9989353
[TBL] [Abstract][Full Text] [Related]
10. An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu(UUR)) gene presenting cardiac dysfunction as the main symptom.
Higashikata T; Koyama J; Shimada H; Yazaki M; Owa M; Ikeda S
Intern Med; 2001 May; 40(5):405-8. PubMed ID: 11393411
[TBL] [Abstract][Full Text] [Related]
11. Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A > G tRNA(Leu) mutation.
van Eijsden RG; Eijssen LM; Lindsey PJ; van den Burg CM; de Wit LE; Rubio-Gozalbo ME; de Die CE; Ayoubi T; Sluiter W; de Coo IF; Smeets HJ
J Med Genet; 2008 Aug; 45(8):525-34. PubMed ID: 18456717
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.
Ballhausen D; Guerry F; Hahn D; Schaller A; Nuoffer JM; Bonafé L; Jeannet PY; Jacquemont S
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S219-26. PubMed ID: 20458543
[TBL] [Abstract][Full Text] [Related]
14. MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
Nakamura M; Yabe I; Sudo A; Hosoki K; Yaguchi H; Saitoh S; Sasaki H
J Med Genet; 2010 Oct; 47(10):659-64. PubMed ID: 20610441
[TBL] [Abstract][Full Text] [Related]
15. A boy with muscle weakness, hypercarbia, and the mitochondrial DNA A3243G mutation.
Saneto RP; Bouldin A
J Child Neurol; 2006 Jan; 21(1):77-9. PubMed ID: 16551459
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
Goto Y; Nonaka I; Horai S
Nature; 1990 Dec; 348(6302):651-3. PubMed ID: 2102678
[TBL] [Abstract][Full Text] [Related]
18. Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNA(Leu(UUR)) gene.
Koga Y; Davidson M; Schon EA; King MP
Muscle Nerve Suppl; 1995; 3():S119-23. PubMed ID: 7603512
[TBL] [Abstract][Full Text] [Related]
19. Diagnosis and management of MELAS.
Thambisetty M; Newman NJ
Expert Rev Mol Diagn; 2004 Sep; 4(5):631-44. PubMed ID: 15347257
[TBL] [Abstract][Full Text] [Related]
20. Heteroplasmy and phenotype spectrum of the mitochondrial tRNA
Liu G; Shen X; Sun Y; Lv Q; Li Y; Du A
J Neurol Sci; 2020 Jan; 408():116562. PubMed ID: 31722256
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
