{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T01:45:42Z","timestamp":1791423942874,"version":"4.3.3"},"reference-count":64,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,2,25]],"date-time":"2011-02-25T00:00:00Z","timestamp":1298592000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["WIREs RNA"],"published-print":{"date-parts":[[2011,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mitochondrial DNA mutations that cause mitochondrial dysfunction are responsible for a wide spectrum of human diseases, referred to as mitochondrial diseases. Pathogenic point mutations are found frequently in genes encoding mitochondrial (mt) tRNAs, indicating that impaired functioning of mutant mt tRNAs is the primary cause of mitochondrial dysfunction. Our previous studies revealed the absence of posttranscriptional taurine modification at the anticodon wobble uridine in mutant mt tRNAs isolated from cells derived from patients with two major classes of mitochondrial diseases, MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke\u2010like episodes) and MERRF (myoclonus epilepsy associated with ragged red fibers). Defective taurine modification of the mutant mt tRNAs results in a deficiency in protein synthesis as the cognate codons of the mutant mt tRNA cannot be decoded. These findings represent the first evidence of a molecular pathogenesis caused by an RNA modification disorder. <jats:italic>WIREs RNA<\/jats:italic> 2011 2 376\u2013386 DOI: 10.1002\/wrna.65<\/jats:p><jats:p>This article is categorized under:\n<jats:list list-type=\"explicit-label\">\n<jats:list-item><jats:p>RNA-Based Catalysis &gt; Miscellaneous RNA-Catalyzed Reactions<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>RNA Interactions with Proteins and Other Molecules &gt; Protein\u2013RNA Interactions: Functional Implications<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>RNA Processing &gt; tRNA Processing<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p>","DOI":"10.1002\/wrna.65","type":"journal-article","created":{"date-parts":[[2011,2,26]],"date-time":"2011-02-26T16:04:53Z","timestamp":1298736293000},"page":"376-386","source":"Crossref","is-referenced-by-count":109,"title":["Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs"],"prefix":"10.1002","volume":"2","author":[{"given":"Suzuki","family":"Tsutomu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nagao","family":"Asuteka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzuki","family":"Takeo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,2,25]]},"reference":[{"key":"e_1_2_9_2_2_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genet.39.110304.095751"},{"key":"e_1_2_9_2_3_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.76.081205.150955"},{"key":"e_1_2_9_2_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/348651a0"},{"key":"e_1_2_9_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90059-N"},{"key":"e_1_2_9_2_6_2","first-page":"428","article-title":"A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.","volume":"46","author":"Holt IJ","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_2_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/331717a0"},{"key":"e_1_2_9_2_8_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.3201231"},{"key":"e_1_2_9_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(88)90218-8"},{"key":"e_1_2_9_2_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki079"},{"key":"e_1_2_9_2_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/24.1.177"},{"key":"e_1_2_9_2_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2004.09.014"},{"key":"e_1_2_9_2_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(05)80860-5"},{"key":"e_1_2_9_2_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(91)90042-8"},{"key":"e_1_2_9_2_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature08802"},{"key":"e_1_2_9_2_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.19.2821"},{"key":"e_1_2_9_2_17_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0005636"},{"key":"e_1_2_9_2_18_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.286.5440.774"},{"key":"e_1_2_9_2_19_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.061013598"},{"key":"e_1_2_9_2_20_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1356-9597.2004.00718.x"},{"key":"e_1_2_9_2_21_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi026882r"},{"key":"e_1_2_9_2_22_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0704441104"},{"key":"e_1_2_9_2_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.2.537"},{"key":"e_1_2_9_2_24_2","doi-asserted-by":"publisher","DOI":"10.1261\/rna.5267604"},{"key":"e_1_2_9_2_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2004.02.008"},{"key":"e_1_2_9_2_26_2","doi-asserted-by":"publisher","DOI":"10.1038\/351236a0"},{"key":"e_1_2_9_2_27_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M908734199"},{"key":"e_1_2_9_2_28_2","first-page":"586","article-title":"Dimerization of a pathogenic human mitochondrial tRNA.","volume":"9","author":"Wittenhagen LM","year":"2002","journal-title":"Nat Struct Biol"},{"key":"e_1_2_9_2_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(03)00373-5"},{"key":"e_1_2_9_2_30_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.467"},{"key":"e_1_2_9_2_31_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.10.4221"},{"key":"e_1_2_9_2_32_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1993.2584"},{"key":"e_1_2_9_2_33_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.43.27189"},{"key":"e_1_2_9_2_34_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.1.123"},{"key":"e_1_2_9_2_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(07)25010-4"},{"key":"e_1_2_9_2_36_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi00174a033"},{"key":"e_1_2_9_2_37_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0907602106"},{"key":"e_1_2_9_2_38_2","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/cdf656"},{"key":"e_1_2_9_2_39_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.21.7398"},{"key":"e_1_2_9_2_40_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.6.3164"},{"key":"e_1_2_9_2_41_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.6.3167"},{"key":"e_1_2_9_2_42_2","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1995.0450"},{"key":"e_1_2_9_2_43_2","first-page":"24","volume-title":"Fine\u2010Tuning of RNA Functions by Modification and Editing.","author":"Suzuki T.","year":"2005"},{"key":"e_1_2_9_2_44_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.82.15.4905"},{"key":"e_1_2_9_2_45_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/6.7.2611"},{"key":"e_1_2_9_2_46_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi00746a005"},{"key":"e_1_2_9_2_47_2","doi-asserted-by":"crossref","first-page":"3343","DOI":"10.1073\/pnas.90.8.3343","article-title":"The nucleotide in position 32 of the tRNA anticodon loop determines ability of anticodon UCC to discriminate among glycine codons.","volume":"90","author":"Lustig F","year":"1993","journal-title":"Proc Natl Acad Sci U S A"},{"key":"e_1_2_9_2_48_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.6.4251"},{"key":"e_1_2_9_2_49_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(00)01145-5"},{"key":"e_1_2_9_2_50_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0405173101"},{"key":"e_1_2_9_2_51_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0500563102"},{"key":"e_1_2_9_2_52_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M800233200"},{"key":"e_1_2_9_2_53_2","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/20.17.4794"},{"key":"e_1_2_9_2_54_2","doi-asserted-by":"publisher","DOI":"10.1017\/S1355838299981529"},{"key":"e_1_2_9_2_55_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0595-47"},{"key":"e_1_2_9_2_56_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0498-350"},{"key":"e_1_2_9_2_57_2","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1093\/genetics\/154.1.363","article-title":"Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA.","volume":"154","author":"Lehtinen SK","year":"2000","journal-title":"Genetics"},{"key":"e_1_2_9_2_58_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl007"},{"key":"e_1_2_9_2_59_2","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1212\/WNL.42.3.545","article-title":"Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke\u2010like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation.","author":"Goto Y","year":"1992","journal-title":"Neurology"},{"key":"e_1_2_9_2_60_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410240609"},{"key":"e_1_2_9_2_61_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm203"},{"key":"e_1_2_9_2_62_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200712"},{"key":"e_1_2_9_2_63_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M409306200"},{"key":"e_1_2_9_2_64_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.004"},{"key":"e_1_2_9_2_65_2","doi-asserted-by":"publisher","DOI":"10.1086\/506389"}],"container-title":["WIREs RNA"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fwrna.65","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fwrna.65","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/wires.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/wrna.65","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T23:35:43Z","timestamp":1695684943000},"score":1,"resource":{"primary":{"URL":"https:\/\/wires.onlinelibrary.wiley.com\/doi\/10.1002\/wrna.65"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2,25]]},"references-count":64,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,5]]}},"alternative-id":["10.1002\/wrna.65"],"URL":"https:\/\/doi.org\/10.1002\/wrna.65","archive":["Portico"],"relation":{},"ISSN":["1757-7004","1757-7012"],"issn-type":[{"value":"1757-7004","type":"print"},{"value":"1757-7012","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,2,25]]}}}