{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T20:24:46Z","timestamp":1791059086302,"version":"4.1.0"},"reference-count":35,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2009,2,1]]},"DOI":"10.1093\/hmg\/ddn382","type":"journal-article","created":{"date-parts":[[2008,11,14]],"date-time":"2008-11-14T20:13:15Z","timestamp":1226693595000},"page":"546-555","source":"Crossref","is-referenced-by-count":83,"title":["Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation"],"prefix":"10.1093","volume":"18","author":[{"given":"Kathrin","family":"Meyer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Marquis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Tr\u00fcb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Nlend Nlend","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Verp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc-David","family":"Ruepp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Imboden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Barde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Trono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Sch\u00fcmperli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2008,11,13]]},"reference":[{"key":"key\n\t\t\t\t20170522161308_DDN382C1","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1615\/CritRevEukaryotGeneExpr.v14.i4.30","article-title":"The regulation and regulatory activities of alternative splicing of the SMN gene","volume":"14","author":"Singh","year":"2004","journal-title":"Crit. Rev. Eukaryot. Gene Expr."},{"key":"key\n\t\t\t\t20170522161308_DDN382C2","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.spen.2006.06.008","article-title":"Spinal muscular atrophy: from gene to therapy","volume":"13","author":"Wirth","year":"2006","journal-title":"Semin. Pediatr. Neurol."},{"key":"key\n\t\t\t\t20170522161308_DDN382C3","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522161308_DDN382C4","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy","volume":"70","author":"Feldk\u00f6tter","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522161308_DDN382C5","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1093\/hmg\/4.10.1927","article-title":"Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals","volume":"4","author":"Hahnen","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522161308_DDN382C6","first-page":"805","article-title":"Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy","volume":"57","author":"Cobben","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522161308_DDN382C7","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1126\/science.1155085","article-title":"Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy","volume":"320","author":"Oprea","year":"2008","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522161308_DDN382C8","doi-asserted-by":"crossref","first-page":"34","DOI":"10.4161\/rna.4.1.4534","article-title":"Spinal muscular atrophy: position and functional importance of the branch site preceding SMN exon 7","volume":"4","author":"Scholl","year":"2007","journal-title":"RNA Biol."},{"key":"key\n\t\t\t\t20170522161308_DDN382C9","doi-asserted-by":"crossref","first-page":"7","DOI":"10.4161\/rna.4.1.4535","article-title":"Evolving concepts on human SMN pre-mRNA splicing","volume":"4","author":"Singh","year":"2007","journal-title":"RNA Biol."},{"key":"key\n\t\t\t\t20170522161308_DDN382C10","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/ng854","article-title":"Disruption of an SF2\/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1","volume":"30","author":"Cartegni","year":"2002","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522161308_DDN382C11","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1086\/498853","article-title":"Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2","volume":"78","author":"Cartegni","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522161308_DDN382C12","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1038\/ng1207","article-title":"A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy","volume":"34","author":"Kashima","year":"2003","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522161308_DDN382C13","doi-asserted-by":"crossref","first-page":"3149","DOI":"10.1093\/hmg\/ddm276","article-title":"hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing","volume":"16","author":"Kashima","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522161308_DDN382C14","doi-asserted-by":"crossref","first-page":"45476","DOI":"10.1074\/jbc.M107632200","article-title":"Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3\u2032 splice site pairing","volume":"276","author":"Lim","year":"2001","journal-title":"J Biol. Chem."},{"key":"key\n\t\t\t\t20170522161308_DDN382C15","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.ajhg.2008.01.014","article-title":"Antisense masking of an hnRNP A1\/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice","volume":"82","author":"Hua","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522161308_DDN382C16","article-title":"A negatively-acting bifunctional RNA increases survival motor neuron in vitro and in vivo","author":"Dickson","year":"2000","journal-title":"Hum. Gene Ther."},{"key":"key\n\t\t\t\t20170522161308_DDN382C17","doi-asserted-by":"crossref","first-page":"4114","DOI":"10.1073\/pnas.0633863100","article-title":"Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts","volume":"100","author":"Skordis","year":"2003","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522161308_DDN382C18","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1038\/nsb887","article-title":"Correction of disease-associated exon skipping by synthetic exon-specific activators","volume":"10","author":"Cartegni","year":"2003","journal-title":"Nat. Struct. Biol."},{"key":"key\n\t\t\t\t20170522161308_DDN382C19","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1038\/sj.mt.6300200","article-title":"Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence","volume":"15","author":"Marquis","year":"2007","journal-title":"Mol. Ther."},{"key":"key\n\t\t\t\t20170522161308_DDN382C20","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1093\/hmg\/6.8.1205","article-title":"The survival motor neuron protein in spinal muscular atrophy","volume":"6","author":"Coovert","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522161308_DDN382C21","doi-asserted-by":"crossref","first-page":"7111","DOI":"10.1128\/JVI.00623-08","article-title":"Genotypic features of lentivirus transgenic mice","volume":"82","author":"Sauvain","year":"2008","journal-title":"J. Virol."},{"key":"key\n\t\t\t\t20170522161308_DDN382C22","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1093\/hmg\/9.3.333","article-title":"The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(\u2212\/\u2212) mice and results in a mouse with spinal muscular atrophy","volume":"9","author":"Monani","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522161308_DDN382C23","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1093\/hmg\/ddi078","article-title":"SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN","volume":"14","author":"Le","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522161308_DDN382C24","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.nbd.2006.07.004","article-title":"Establishing a standardized therapeutic testing protocol for spinal muscular atrophy","volume":"24","author":"Tsai","year":"2006","journal-title":"Neurobiol. Dis."},{"key":"key\n\t\t\t\t20170522161308_DDN382C25","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1093\/hmg\/ddm379","article-title":"Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect","volume":"17","author":"Gavrilina","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522161308_DDN382C26","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/S0168-0102(02)00195-5","article-title":"Intramuscular injection of AAV-GDNF results in sustained expression of transgenic GDNF, and its delivery to spinal motoneurons by retrograde transport","volume":"45","author":"Lu","year":"2003","journal-title":"Neurosci. Res."},{"key":"key\n\t\t\t\t20170522161308_DDN382C27","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1089\/hum.2007.093","article-title":"Neonatal intraperitoneal or intravenous injections of recombinant adeno-associated virus type 8 transduce dorsal root ganglia and lower motor neurons","volume":"19","author":"Foust","year":"2008","journal-title":"Hum. Gene Ther."},{"key":"key\n\t\t\t\t20170522161308_DDN382C28","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1038\/sj.mt.6300367","article-title":"Efficient retrograde neuronal transduction utilizing self-complementary AAV1","volume":"16","author":"Hollis","year":"2008","journal-title":"Mol. Ther."},{"key":"key\n\t\t\t\t20170522161308_DDN382C29","article-title":"Doxycycline-controlled splicing modulation by regulated antisense U7 snRNA expression cassettes","author":"Marquis","year":"2008","journal-title":"Gene Ther."},{"key":"key\n\t\t\t\t20170522161308_DDN382C30","doi-asserted-by":"crossref","first-page":"e921","DOI":"10.1371\/journal.pone.0000921","article-title":"Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs","volume":"2","author":"Gabanella","year":"2007","journal-title":"PLoS ONE"},{"key":"key\n\t\t\t\t20170522161308_DDN382C31","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.cell.2008.03.031","article-title":"SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing","volume":"133","author":"Zhang","year":"2008","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522161308_DDN382C32","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1182\/blood.V100.3.813","article-title":"Lentiviral vectors containing the human immunodeficiency virus type-1 central polypurine tract can efficiently transduce nondividing hepatocytes and antigen-presenting cells in vivo","volume":"100","author":"VandenDriessche","year":"2002","journal-title":"Blood"},{"key":"key\n\t\t\t\t20170522161308_DDN382C33","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.ymthe.2005.09.012","article-title":"Efficient control of gene expression in the hematopoietic system using a single Tet-on inducible lentiviral vector","volume":"13","author":"Barde","year":"2006","journal-title":"Mol. Ther."},{"key":"key\n\t\t\t\t20170522161308_DDN382C34","doi-asserted-by":"crossref","first-page":"9920","DOI":"10.1073\/pnas.94.18.9920","article-title":"Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos","volume":"94","author":"Schrank","year":"1997","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522161308_DDN382C35","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/sj.gt.3302440","article-title":"A lentiviral vector encoding the human Wiskott\u2013Aldrich syndrome protein corrects immune and cytoskeletal defects in WASP knockout mice","volume":"12","author":"Charrier","year":"2005","journal-title":"Gene Ther."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/article\/18\/3\/546\/2527402\/Rescue-of-a-severe-mouse-model-for-spinal-muscular","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,18]],"date-time":"2017-06-18T09:38:27Z","timestamp":1497778707000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddn382"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,13]]},"references-count":35,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2008,11,13]]},"published-print":{"date-parts":[[2009,2,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddn382","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2008,11,13]]}}}