{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T10:50:26Z","timestamp":1790247026933,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2010,4,13]],"date-time":"2010-04-13T00:00:00Z","timestamp":1271116800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Neuroscience Research"],"published-print":{"date-parts":[[2010,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rett syndrome is a pediatric neurological condition that affects primarily girls. Approximately 30% of Rett syndrome cases arise from point mutations that introduce a premature stop codon into the <jats:italic>MECP2<\/jats:italic> gene. Several studies have now shown that certain aminoglycosides can facilitate read\u2010through of some types of nonsense mutations in a context\u2010dependent manner and allow the generation of a full\u2010length protein. It remains mostly unclear whether different nonsense mutations of <jats:italic>MECP2<\/jats:italic> will be responsive to aminoglycoside treatment. In this study, we tested whether the common premature terminating mutations of <jats:italic>MECP2<\/jats:italic> seen in Rett syndrome cases can be partially suppressed by aminoglycoside administration. Our results show that aminoglycosides allow different mutant forms of <jats:italic>MECP2<\/jats:italic> to be overcome in transiently transfected HEK293 cells, but with differing levels of efficiency. In addition, we also show that aminoglycosides increased the prevalence of full\u2010length MeCP2 protein in a dose\u2010dependent manner in a lymphocyte cell line derived from a Rett syndrome girl with the R255X mutation. This study helps to establish the \u201cproof of principle\u201d that some nonsense mutations causing Rett syndrome can be at least partially suppressed by drug treatment. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/jnr.22409","type":"journal-article","created":{"date-parts":[[2010,4,13]],"date-time":"2010-04-13T22:01:11Z","timestamp":1271196071000},"page":"2316-2324","source":"Crossref","is-referenced-by-count":40,"title":["Aminoglycoside\u2010mediated partial suppression of <i>MECP2<\/i> nonsense mutations responsible for Rett syndrome in vitro"],"prefix":"10.1002","volume":"88","author":[{"given":"Andreea C.","family":"Popescu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Sidorova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangming","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James H.","family":"Eubanks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,4,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI7866"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm1197-1280"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gt.3302211"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e31819d9ebc"},{"key":"e_1_2_6_7_1","first-page":"155","article-title":"Pitfalls of quantitative real\u2010time reverse\u2010transcription polymerase chain reaction","volume":"15","author":"Bustin SA","year":"2004","journal-title":"J Biomol Technol"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh282"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-006-0045-5"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0610593104"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1138389"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1039\/B712690P"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp030"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm0496-467"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200008)48:2<164::AID-ANA5>3.0.CO;2-B"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn026"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-001-0317-z"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61168-X"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0405155101"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0401626101"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1355838200000716"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.4161\/epi.1.4.3514"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1021\/jm801640k"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807308715"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2006.01915.x"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0410-7"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05756"}],"container-title":["Journal of Neuroscience Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjnr.22409","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jnr.22409","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,2]],"date-time":"2023-11-02T06:08:54Z","timestamp":1698905334000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jnr.22409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,4,13]]},"references-count":26,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2010,8,15]]}},"alternative-id":["10.1002\/jnr.22409"],"URL":"https:\/\/doi.org\/10.1002\/jnr.22409","archive":["Portico"],"relation":{},"ISSN":["0360-4012","1097-4547"],"issn-type":[{"value":"0360-4012","type":"print"},{"value":"1097-4547","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,4,13]]}}}