296 related articles for article (PubMed ID: 8891562)
1. Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene.
Kishnani PS; Van Hove JL; Shoffner JS; Kaufman A; Bossen EH; Kahler SG
Eur J Pediatr; 1996 Oct; 155(10):898-903. PubMed ID: 8891562
[TBL] [Abstract][Full Text] [Related]
2. Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.
Okhuijsen-Kroes EJ; Trijbels JM; Sengers RC; Mariman E; van den Heuvel LP; Wendel U; Koch G; Smeitink JA
Neuropediatrics; 2001 Aug; 32(4):183-90. PubMed ID: 11571698
[TBL] [Abstract][Full Text] [Related]
3. [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]
4. The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.
Moraes CT; Ricci E; Bonilla E; DiMauro S; Schon EA
Am J Hum Genet; 1992 May; 50(5):934-49. PubMed ID: 1315123
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).
Dougherty FE; Ernst SG; Aprille JR
J Pediatr; 1994 Nov; 125(5 Pt 1):758-61. PubMed ID: 7965431
[TBL] [Abstract][Full Text] [Related]
7. The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.
Fabrizi GM; Cardaioli E; Grieco GS; Cavallaro T; Malandrini A; Manneschi L; Dotti MT; Federico A; Guazzi G
J Neurol Neurosurg Psychiatry; 1996 Jul; 61(1):47-51. PubMed ID: 8676159
[TBL] [Abstract][Full Text] [Related]
8. Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.
Campos Y; Martin MA; Lorenzo G; Aparicio M; Cabello A; Arenas J
Muscle Nerve; 1996 Feb; 19(2):187-90. PubMed ID: 8559168
[TBL] [Abstract][Full Text] [Related]
9. Organ distribution of mutant mitochondrial tRNA(leu(UUR)) gene in a MELAS patient.
Hamazaki S; Koshiba M; Sugiyama T
Acta Pathol Jpn; 1993 Apr; 43(4):187-91. PubMed ID: 8493868
[TBL] [Abstract][Full Text] [Related]
10. Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA(LEU(UUR)) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).
Suzuki S; Hinokio Y; Hirai S; Onoda M; Matsumoto M; Ohtomo M; Kawasaki H; Satoh Y; Akai H; Abe K
Diabetologia; 1994 Aug; 37(8):818-25. PubMed ID: 7988784
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne.
Houshmand M; Larsson NG; Oldfors A; Tulinius M; Holme E
Hum Genet; 1996 Mar; 97(3):269-73. PubMed ID: 8786060
[TBL] [Abstract][Full Text] [Related]
13. Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes.
Procaccio V; Neckelmann N; Paquis-Flucklinger V; Bannwarth S; Jimenez R; Davila A; Poole JC; Wallace DC
Mol Diagn Ther; 2006; 10(6):381-9. PubMed ID: 17154655
[TBL] [Abstract][Full Text] [Related]
14. A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).
Kobayashi Y; Momoi MY; Tominaga K; Momoi T; Nihei K; Yanagisawa M; Kagawa Y; Ohta S
Biochem Biophys Res Commun; 1990 Dec; 173(3):816-22. PubMed ID: 2268345
[TBL] [Abstract][Full Text] [Related]
15. [Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accidents (MELAS) in pediatric age with the A3243G mutation in the tRNALeu(UUR) gene of mitochondrial DNA].
Coelho-Miranda L; Playan A; Artuch R; Vilaseca MA; Colomer J; Briones P; Coll-Cantí J; Conill J; Sans A; López de Munain A; Solano A; Alcaine MJ; Montoya J; Pineda M
Rev Neurol; 2000 Nov 1-15; 31(9):804-11. PubMed ID: 11127079
[TBL] [Abstract][Full Text] [Related]
16. The MELAS mutation m.3243A>G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs.
Meseguer S; Panadero J; Navarro-González C; Villarroya M; Boutoual R; Comi GP; Armengod ME
Biochim Biophys Acta Mol Basis Dis; 2018 Sep; 1864(9 Pt B):3022-3037. PubMed ID: 29928977
[TBL] [Abstract][Full Text] [Related]
17. The mitochondrial A3243G mutation presenting as severe cardiomyopathy.
Vilarinho L; Santorelli FM; Rosas MJ; Tavares C; Melo-Pires M; DiMauro S
J Med Genet; 1997 Jul; 34(7):607-9. PubMed ID: 9222976
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. A MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) mtDNA mutation that induces subacute dementia which mimicks Creutzfeldt-Jakob disease.
Isozumi K; Fukuuchi Y; Tanaka K; Nogawa S; Ishihara T; Sakuta R
Intern Med; 1994 Sep; 33(9):543-6. PubMed ID: 8000105
[TBL] [Abstract][Full Text] [Related]
20. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.
King MP; Koga Y; Davidson M; Schon EA
Mol Cell Biol; 1992 Feb; 12(2):480-90. PubMed ID: 1732728
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
