{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:11:18Z","timestamp":1791331878053,"version":"4.3.1"},"reference-count":15,"publisher":"Hindawi Limited","issue":"2","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1027,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2013,2]]},"DOI":"10.1002\/humu.22236","type":"journal-article","created":{"date-parts":[[2012,10,15]],"date-time":"2012-10-15T09:34:38Z","timestamp":1350293678000},"page":"287-291","source":"Crossref","is-referenced-by-count":13,"title":["Alternative Splicing of In-Frame Exon Associated with Premature Termination Codons: Implications for Readthrough Therapies"],"prefix":"10.1155","volume":"34","author":[{"given":"Alexandre","family":"Hinzpeter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdel","family":"Aissat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alix","family":"de Becdeli\u00e8vre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Bieth","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Purpan; Toulouse; France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elvira","family":"Sondo","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Molecolare, Istituto G. Gaslini; Genoa; Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natacha","family":"Martin","sequence":"additional","affiliation":[{"name":"INSERM U955, Cr\u00e9teil 94000; France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Costes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Goossens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis J.V.","family":"Galietta","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Molecolare, Istituto G. Gaslini; Genoa; Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Girodon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Fanen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2012,11,8]]},"reference":[{"key":"10.1002\/humu.22236-BIB0001|humu22236-cit-0001","doi-asserted-by":"crossref","first-page":"2481","DOI":"10.1093\/hmg\/ddg256","article-title":"Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy","volume":"12","author":"Brichta","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22236-BIB0002|humu22236-cit-0002","doi-asserted-by":"crossref","first-page":"9808","DOI":"10.1073\/pnas.171105098","article-title":"Treatment of spinal muscular atrophy by sodium butyrate","volume":"98","author":"Chang","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22236-BIB0003|humu22236-cit-0003","first-page":"476","article-title":"Making antisense of splicing","volume":"7","author":"Garcia-Blanco","year":"2005","journal-title":"Curr Opin Mol Ther"},{"issue":"10","key":"10.1002\/humu.22236-BIB0004|humu22236-cit-0004","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1001153","article-title":"Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier","volume":"6","author":"Hinzpeter","year":"2010","journal-title":"PLoS Genet"},{"key":"10.1002\/humu.22236-BIB0005|humu22236-cit-0005","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1038\/ng1403","article-title":"Nonsense-mediated decay approaches the clinic","volume":"36","author":"Holbrook","year":"2004","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22236-BIB0006|humu22236-cit-0006","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/1531-8249(200008)48:2<164::AID-ANA5>3.0.CO;2-B","article-title":"Sequence specificity of aminoglycoside-induced stop codon readthrough: potential implications for treatment of Duchenne muscular dystrophy","volume":"48","author":"Howard","year":"2000","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.22236-BIB0007|humu22236-cit-0007","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1007\/s00109-001-0317-z","article-title":"Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system","volume":"80","author":"Keeling","year":"2002","journal-title":"J Mol Med (Berl)"},{"key":"10.1002\/humu.22236-BIB0008|humu22236-cit-0008","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1016\/S0140-6736(08)61168-X","article-title":"Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial","volume":"372","author":"Kerem","year":"2008","journal-title":"Lancet"},{"key":"10.1002\/humu.22236-BIB0009|humu22236-cit-0009","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1172\/JCI28523","article-title":"Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin","volume":"117","author":"Linde","year":"2007","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.22236-BIB0010|humu22236-cit-0010","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1002\/humu.21146","article-title":"Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon","volume":"31","author":"Musante","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22236-BIB0011|humu22236-cit-0011","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1007\/978-3-540-34449-0_10","article-title":"Splicing modulation as a modifier of the CFTR function","volume":"44","author":"Nissim-Rafinia","year":"2006","journal-title":"Prog Mol Subcell Biol"},{"key":"10.1002\/humu.22236-BIB0012|humu22236-cit-0012","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1164\/rccm.201001-0137OC","article-title":"Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis","volume":"182","author":"Sermet-Gaudelus","year":"2010","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1002\/humu.22236-BIB0013|humu22236-cit-0013","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1741-7015-5-5","article-title":"In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study","volume":"5","author":"Sermet-Gaudelus","year":"2007","journal-title":"BMC Med"},{"key":"10.1002\/humu.22236-BIB0014|humu22236-cit-0014","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1183\/09031936.00120910","article-title":"Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis","volume":"38","author":"Wilschanski","year":"2011","journal-title":"Eur Respir J"},{"key":"10.1002\/humu.22236-BIB0015|humu22236-cit-0015","doi-asserted-by":"crossref","first-page":"1532","DOI":"10.1038\/sj.gt.3301550","article-title":"An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA","volume":"8","author":"Zhang","year":"2001","journal-title":"Gene Ther"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22236","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.22236","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:54:10Z","timestamp":1672332850000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22236"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,8]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,2]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22236","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2012,11,8]]}}}