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1)Yatsuga S, Povalko N, Nishioka J, et al. MELAS: a nationwide prospective cohort study of 96 patients in Japan. Biochim Biophys Acta-General Subjects. 2012; 1820: 619-24
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2)DiMauro S, Hirano M. MELAS. Gene Reviews [Internet] Last update: Nov. 21, 2013
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3)Yasukawa T, Suzuki T, Suzuki T, et al. Modification defect at anticodon wobble nucleotide of mitochondrial tRNAsLeu(UUR) with pathogenic mutations of mitochodrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. J Biol Chem. 2000; 275: 4251-7
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4)Yasukawa T, Suzuki T, Ishii N, et al. Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNALys with the MERRF encephalopathy pathogenic mutation. FEBS Lett. 2000; 467: 175-8
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5)Suzuki T, Suzuki T, Wada T, et al. Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases. EMBO J. 2002; 21: 6581-9
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6)Yasukawa T, Suzuki T, Ishii N, et al. Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease. EMBO J. 2001; 20: 4794-802
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7)Torres AG, Batlle E, de Pouplana LR. Role of tRNA modifications in human diseases. Trend Mol Med. 2014; 20: 306-14
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8)Suzuki T, Nagao A, Suzuki T. Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs. WIREs RNA. 2011; 2: 376-86
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9)Ito T, Kimura Y, Uozumi Y, et al. Taurine depletion caused by knocking out the taurine transporter gene leads to cardiomyopathy with cardiac atrophy. J Mol Cell Cardiol. 2008; 44: 927-37
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10)Schaffer SW, Jong CJ, Warner D, et al. Taurine deficiency and MELAS are closely related syndromes. Adv Exp Med Biol. 2013; 776: 153-65
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11)Rikimaru M, Ohsawa Y, Wolf AM, et al. Taurine ameliorates impaired the mitochondrial function and prevents stroke-like episodes in patients with MELAS. Intern Med. 2012; 51: 3351-7
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12)Steinthorsdottir V, Thorleifsson G, Reynisdottir I, et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet. 2007; 39: 770-5
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13)Arragain S, Handelman SK, Forouhar F, et al. Identification of eukaryotic and prokaryotic methylthiotransferase for biosynthesis of 2-methyl-N6-threonylcarbamoyladenosine in tRNA. J Biol Chem. 2010; 285: 28425-33
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14)Wei FY, Suzuki T, Watanabe S, et al. Deficit of tRNA (Lys) modification by Cdkal1 causes the development of type 2 diabetes in mice. J Clin Invest. 2011; 121: 3598-608
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15)Wei FY, Zhou B, Suzuki T, et al. Cdk5rap1-mediated 2-methylthio modification of mitochondrial tRNAs governs protein translation and con-tributes to myopathy in mice and humans. Cell Metab. 2015; 21: 1-15
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