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Journal Abstract Search

405 related items for PubMed ID: 7804130

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy.
    Goto Y, Tojo M, Tohyama J, Horai S, Nonaka I.
    Ann Neurol; 1992 Jun; 31(6):672-5. PubMed ID: 1514779
    [Abstract] [Full Text] [Related]

  • 3. Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy.
    Kovalenko SA, Tanaka M, Yoneda M, Iakovlev AF, Ozawa T.
    Biochem Biophys Res Commun; 1996 May 15; 222(2):201-7. PubMed ID: 8670183
    [Abstract] [Full Text] [Related]

  • 4. 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 13; 348(6302):651-3. PubMed ID: 2102678
    [Abstract] [Full Text] [Related]

  • 5. [MELAS (mitochondrial myopathy, encephalopathy lactic acidosis, and stroke-like episodes): clinical features and mitochondrial DNA mutations].
    Goto Y.
    Nihon Rinsho; 1993 Sep 13; 51(9):2373-8. PubMed ID: 8411715
    [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 03; 578(1-2):135-9. PubMed ID: 15581630
    [Abstract] [Full Text] [Related]

  • 7. 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 28; 233(3):637-9. PubMed ID: 9168904
    [Abstract] [Full Text] [Related]

  • 8. Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease.
    Iwasaki N, Babazono T, Tsuchiya K, Tomonaga O, Suzuki A, Togashi M, Ujihara N, Sakka Y, Yokokawa H, Ogata M, Nihei H, Iwamoto Y.
    J Hum Genet; 2001 Apr 28; 46(6):330-4. PubMed ID: 11393536
    [Abstract] [Full Text] [Related]

  • 9. Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNA[Leu(UUR)] region.
    Tsukuda K, Suzuki Y, Kameoka K, Osawa N, Goto Y, Katagiri H, Asano T, Yazaki Y, Oka Y.
    Diabet Med; 1997 Dec 28; 14(12):1032-7. PubMed ID: 9455930
    [Abstract] [Full Text] [Related]

  • 10. 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 17; 102(20):7127-32. PubMed ID: 15870203
    [Abstract] [Full Text] [Related]

  • 11. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.
    van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, Froguel P, Maassen JA.
    Diabetes; 1994 Jun 17; 43(6):746-51. PubMed ID: 7910800
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 202(3):1624-30. PubMed ID: 7520241
    [Abstract] [Full Text] [Related]

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  • 14. Insulin resistance in patients with the mitochondrial tRNA(Leu(UUR)) gene mutation at position 3243.
    Becker R, Laube H, Linn T, Damian MS.
    Exp Clin Endocrinol Diabetes; 2002 Sep 15; 110(6):291-7. PubMed ID: 12373633
    [Abstract] [Full Text] [Related]

  • 15. [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; 2002 Sep 15; 44(1):18-22. PubMed ID: 17199225
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 47(10):659-64. PubMed ID: 20610441
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 45(8):525-34. PubMed ID: 18456717
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 63(1):71-6. PubMed ID: 10645055
    [Abstract] [Full Text] [Related]

  • 19. High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.
    Cevoli S, Pallotti F, La Morgia C, Valentino ML, Pierangeli G, Cortelli P, Baruzzi A, Montagna P, Carelli V.
    Cephalalgia; 2010 Aug 15; 30(8):919-27. PubMed ID: 20656703
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 36(2):180-2. PubMed ID: 23582502
    [Abstract] [Full Text] [Related]

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