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Journal Abstract Search

405 related items for PubMed ID: 7804130

  • 21. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
    Moraes CT, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N, Lovelace RE, Rowland LP, Schon EA, DiMauro S.
    J Clin Invest; 1993 Dec; 92(6):2906-15. PubMed ID: 8254046
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  • 22. [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
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  • 23. Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia.
    Munakata K, Iwamoto K, Bundo M, Kato T.
    Biol Psychiatry; 2005 Mar 01; 57(5):525-32. PubMed ID: 15737668
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  • 24. The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation.
    Park H, Davidson E, King MP.
    Biochemistry; 2003 Feb 04; 42(4):958-64. PubMed ID: 12549915
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  • 25. Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
    Tokunaga M, Mita S, Sakuta R, Nonaka I, Araki S.
    Ann Neurol; 1993 Mar 04; 33(3):275-80. PubMed ID: 7684581
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  • 29. 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 01; 17(23):3697-707. PubMed ID: 18753147
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  • 31. Mitochondrial myopathy with progressive decrease in mitochondrial tRNA(Leu)(UUR) mutant genomes.
    Kawakami Y, Sakuta R, Hashimoto K, Fujino O, Fujita T, Hida M, Horai S, Goto Y, Nonaka I.
    Ann Neurol; 1994 Mar 01; 35(3):370-3. PubMed ID: 8122892
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  • 33. The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy.
    Feigenbaum A, Chitayat D, Robinson B, MacGregor D, Myint T, Arbus G, Nowaczyk MJ.
    Am J Med Genet; 1996 Apr 24; 62(4):404-9. PubMed ID: 8723072
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  • 35. Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation.
    Remes AM, Majamaa K, Herva R, Hassinen IE.
    Neurology; 1993 May 24; 43(5):1015-20. PubMed ID: 8492919
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  • 36. 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 20; 355(4):1031-7. PubMed ID: 17336924
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  • 37. Clinical, pathologic and genetic studies on mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.
    Guo Y, Guo Z, Chen L, Zhang J, Wang W, Liu X, Ren H, Gao S.
    Chin Med J (Engl); 1997 Nov 20; 110(11):851-5. PubMed ID: 9772417
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  • 38. 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 20; 37(8):818-25. PubMed ID: 7988784
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  • 39. MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.
    Huang CC, Chen RS, Chen CM, Wang HS, Lee CC, Pang CY, Hsu HS, Lee HC, Wei YH.
    J Neurol Neurosurg Psychiatry; 1994 May 20; 57(5):586-9. PubMed ID: 8201329
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