{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T01:54:30Z","timestamp":1793066070359,"version":"4.5.0"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,5,1]]},"DOI":"10.1093\/hmg\/ddt037","type":"journal-article","created":{"date-parts":[[2013,2,6]],"date-time":"2013-02-06T22:14:50Z","timestamp":1360188890000},"page":"1843-1855","source":"Crossref","is-referenced-by-count":33,"title":["Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy"],"prefix":"10.1093","volume":"22","author":[{"given":"Melissa S.","family":"Cobb","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferril F.","family":"Rose","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hansj\u00f6rg","family":"Rindt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline J.","family":"Glascock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monir","family":"Shababi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeline R.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erkan Y.","family":"Osman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Fen","family":"Yen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael L.","family":"Garcia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brittanie R.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary J.","family":"Wetz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Mazzasette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihua","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chien-Ping","family":"Ko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian L.","family":"Lorson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,2,5]]},"reference":[{"key":"key\n\t\t\t\t20170503072851_DDT037C1","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":"Feldkotter","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C2","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1177\/0883073807305673","article-title":"Spinal muscular atrophy: clinical classification and disease heterogeneity","volume":"22","author":"Russman","year":"2007","journal-title":"J. Child. Neurol."},{"key":"key\n\t\t\t\t20170503072851_DDT037C3","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1007\/s11910-011-0240-9","article-title":"New therapeutic approaches to spinal muscular atrophy","volume":"12","author":"Lewelt","year":"2012","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"key\n\t\t\t\t20170503072851_DDT037C4","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\t20170503072851_DDT037C5","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1073\/pnas.96.11.6307","article-title":"A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy","volume":"96","author":"Lorson","year":"1999","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170503072851_DDT037C6","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1086\/513886","article-title":"Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype","volume":"61","author":"Campbell","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C7","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1086\/515465","article-title":"Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number","volume":"60","author":"McAndrew","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C8","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1086\/302369","article-title":"Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling","volume":"64","author":"Wirth","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C9","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1097\/00125817-200201000-00004","article-title":"Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2","volume":"4","author":"Mailman","year":"2002","journal-title":"Genet. Med."},{"key":"key\n\t\t\t\t20170503072851_DDT037C10","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\t20170503072851_DDT037C11","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(-\/-) 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\t20170503072851_DDT037C12","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.mcn.2009.05.009","article-title":"SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis","volume":"42","author":"Bowerman","year":"2009","journal-title":"Mol. Cell. Neurosci."},{"key":"key\n\t\t\t\t20170503072851_DDT037C13","doi-asserted-by":"crossref","first-page":"1468","DOI":"10.1093\/hmg\/ddq021","article-title":"Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model","volume":"19","author":"Bowerman","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C14","doi-asserted-by":"crossref","first-page":"2727","DOI":"10.1093\/hmg\/10.23.2727","article-title":"Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing","volume":"10","author":"DiDonato","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C15","doi-asserted-by":"crossref","first-page":"9618","DOI":"10.1073\/pnas.160181697","article-title":"Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)","volume":"97","author":"Hofmann","year":"2000","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170503072851_DDT037C16","doi-asserted-by":"crossref","first-page":"2657","DOI":"10.1002\/jnr.21308","article-title":"QNQKE targeting motif for the SMN-Gemin multiprotein complex in neurons","volume":"12","author":"Zhang","year":"2007","journal-title":"J. Neurosci. Res."},{"key":"key\n\t\t\t\t20170503072851_DDT037C17","doi-asserted-by":"crossref","first-page":"6627","DOI":"10.1523\/JNEUROSCI.23-16-06627.2003","article-title":"Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization","volume":"23","author":"Zhang","year":"2003","journal-title":"J. Neurosci."},{"key":"key\n\t\t\t\t20170503072851_DDT037C18","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1093\/hmg\/ddp030","article-title":"Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo","volume":"18","author":"Heier","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C19","doi-asserted-by":"crossref","first-page":"2658","DOI":"10.1007\/s00018-004-4300-z","article-title":"Modulation of SMN nuclear foci and cytoplasmic localization by its C-terminus","volume":"61","author":"Hua","year":"2004","journal-title":"Cell Mol. Life Sci."},{"key":"key\n\t\t\t\t20170503072851_DDT037C20","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.neulet.2008.06.059","article-title":"A SMNDelta7 read-through product confers functionality to the SMNDelta7 protein","volume":"442","author":"Mattis","year":"2008","journal-title":"Neurosci. Lett."},{"key":"key\n\t\t\t\t20170503072851_DDT037C21","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1093\/hmg\/ddi131","article-title":"A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels","volume":"14","author":"Wolstencroft","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C22","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1007\/s00439-006-0245-7","article-title":"Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts","volume":"120","author":"Mattis","year":"2006","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C23","doi-asserted-by":"crossref","first-page":"3906","DOI":"10.1093\/hmg\/ddp333","article-title":"Delivery of a read-through inducing compound, TC007, lessens the severity of a SMA animal model","volume":"20","author":"Mattis","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C24","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1186\/1471-2202-10-142","article-title":"Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA","volume":"10","author":"Mattis","year":"2009","journal-title":"BMC Neurosci."},{"key":"key\n\t\t\t\t20170503072851_DDT037C25","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.neulet.2012.07.024","article-title":"Analysis of a read-through promoting compound in a severe mouse model of spinal muscular atrophy","volume":"525","author":"Mattis","year":"2012","journal-title":"Neurosci. Lett."},{"key":"key\n\t\t\t\t20170503072851_DDT037C26","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.nbd.2007.04.009","article-title":"Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy","volume":"27","author":"Butchbach","year":"2007","journal-title":"Neurobiol. Dis."},{"key":"key\n\t\t\t\t20170503072851_DDT037C27","doi-asserted-by":"crossref","first-page":"e15457","DOI":"10.1371\/journal.pone.0015457","article-title":"Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy","volume":"5","author":"Ling","year":"2010","journal-title":"PLoS ONE"},{"key":"key\n\t\t\t\t20170503072851_DDT037C28","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1093\/hmg\/ddr453","article-title":"Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy","volume":"21","author":"Ling","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C29","first-page":"57","article-title":"Defects in neuromuscular junction remodelling in the Smn(2B\/-) mouse model of spinal muscular atrophy","volume":"49C","author":"Murray","year":"2012","journal-title":"Neurobiol. Dis."},{"key":"key\n\t\t\t\t20170503072851_DDT037C30","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1093\/hmg\/ddm367","article-title":"Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy","volume":"17","author":"Murray","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C31","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1083\/jcb.200401115","article-title":"Nerve-independent formation of a topologically complex postsynaptic apparatus","volume":"164","author":"Kummer","year":"2004","journal-title":"J. Cell. Biol."},{"key":"key\n\t\t\t\t20170503072851_DDT037C32","doi-asserted-by":"crossref","first-page":"3895","DOI":"10.1093\/hmg\/ddq300","article-title":"Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery","volume":"19","author":"Bevan","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C33","doi-asserted-by":"crossref","first-page":"3906","DOI":"10.1093\/hmg\/ddq330","article-title":"Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice","volume":"20","author":"Heier","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C34","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1136\/jmg.2008.057950","article-title":"Congenital heart disease is a feature of severe infantile spinal muscular atrophy","volume":"45","author":"Rudnik-Schoneborn","year":"2008","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C35","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1016\/j.yjmcc.2012.01.005","article-title":"Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy","volume":"52","author":"Shababi","year":"2012","journal-title":"J. Mol. Cell. Cardiol."},{"key":"key\n\t\t\t\t20170503072851_DDT037C36","doi-asserted-by":"crossref","first-page":"4059","DOI":"10.1093\/hmg\/ddq329","article-title":"Cardiac defects contribute to the pathology of spinal muscular atrophy models","volume":"19","author":"Shababi","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C37","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1089\/hum.2011.166","article-title":"Decreasing disease severity in symptomatic, Smn(-\/-);SMN2(+\/+), spinal muscular atrophy mice following scAAV9-SMN delivery","volume":"23","author":"Glascock","year":"2012","journal-title":"Hum. Gene Ther."},{"key":"key\n\t\t\t\t20170503072851_DDT037C38","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1093\/hmg\/ddq514","article-title":"Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice","volume":"20","author":"Dominguez","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C39","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/nbt.1610","article-title":"Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN","volume":"28","author":"Foust","year":"2010","journal-title":"Nat. Biotechnol."},{"key":"key\n\t\t\t\t20170503072851_DDT037C40","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1016\/j.bbrc.2011.11.121","article-title":"Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of spinal muscular atrophy","volume":"417","author":"Glascock","year":"2012","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"key\n\t\t\t\t20170503072851_DDT037C41","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1172\/JCI41615","article-title":"CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy","volume":"120","author":"Passini","year":"2010","journal-title":"J. Clin. Invest."},{"key":"key\n\t\t\t\t20170503072851_DDT037C42","doi-asserted-by":"crossref","first-page":"35ra42","DOI":"10.1126\/scitranslmed.3000830","article-title":"Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy","volume":"2","author":"Valori","year":"2010","journal-title":"Sci. Transl. Med."},{"key":"key\n\t\t\t\t20170503072851_DDT037C43","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.4155\/fmc.12.131","article-title":"SMN-inducing compounds for the treatment of spinal muscular atrophy","volume":"4","author":"Lorson","year":"2012","journal-title":"Future Med. Chem."},{"key":"key\n\t\t\t\t20170503072851_DDT037C44","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1007\/s11910-010-0095-5","article-title":"Spinal muscular atrophy: new and emerging insights from model mice","volume":"10","author":"Park","year":"2010","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"key\n\t\t\t\t20170503072851_DDT037C45","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/1741-7015-10-24","article-title":"Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy","volume":"10","author":"Bowerman","year":"2012","journal-title":"BMC Med."},{"key":"key\n\t\t\t\t20170503072851_DDT037C46","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1007\/s00439-012-1171-5","article-title":"Mouse models of SMA: tools for disease characterization and therapeutic development","volume":"18","author":"Bebee","year":"2012","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C47","doi-asserted-by":"crossref","first-page":"4431","DOI":"10.1093\/hmg\/dds285","article-title":"Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models","volume":"21","author":"Osborne","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C48","doi-asserted-by":"crossref","first-page":"4239","DOI":"10.1093\/hmg\/ddq343","article-title":"A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype","volume":"19","author":"Gladman","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C49","doi-asserted-by":"crossref","first-page":"1844","DOI":"10.1093\/hmg\/ddr067","article-title":"Increased IGF-1 in muscle modulates the phenotype of severe SMA mice","volume":"20","author":"Bosch-Marce","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C50","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1093\/hmg\/ddn426","article-title":"Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy","volume":"18","author":"Rose","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C51","doi-asserted-by":"crossref","first-page":"3145","DOI":"10.1093\/hmg\/ddp253","article-title":"Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice","volume":"18","author":"Sumner","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C52","doi-asserted-by":"crossref","first-page":"3906","DOI":"10.1093\/hmg\/ddp333","article-title":"Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model","volume":"18","author":"Mattis","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072851_DDT037C53","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/S0167-4781(99)00060-3","article-title":"Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT)","volume":"1445","author":"Monani","year":"1999","journal-title":"Biochim. Biophys. Acta"},{"key":"key\n\t\t\t\t20170503072851_DDT037C54","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1083\/jcb.200208079","article-title":"A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy","volume":"160","author":"Monani","year":"2003","journal-title":"J. Cell. Biol."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/22\/9\/1843\/14141175\/ddt037.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,9]],"date-time":"2019-07-09T06:42:05Z","timestamp":1562654525000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddt037"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,5]]},"references-count":54,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2013,2,5]]},"published-print":{"date-parts":[[2013,5,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddt037","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2013,2,5]]}}}