{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T14:39:23Z","timestamp":1791211163536,"version":"4.1.0"},"reference-count":93,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2006,3,1]],"date-time":"2006-03-01T00:00:00Z","timestamp":1141171200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Trends in Molecular Medicine"],"published-print":{"date-parts":[[2006,3]]},"DOI":"10.1016\/j.molmed.2006.01.005","type":"journal-article","created":{"date-parts":[[2006,2,14]],"date-time":"2006-02-14T07:09:13Z","timestamp":1139900953000},"page":"113-121","source":"Crossref","is-referenced-by-count":98,"title":["Spinal muscular atrophy: the RNP connection"],"prefix":"10.1016","volume":"12","author":[{"given":"Christian","family":"Eggert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwin","family":"Chari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Laggerbauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Utz","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.molmed.2006.01.005_bib1","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.tig.2004.12.001","article-title":"Light in retinitis pigmentosa","volume":"21","author":"Kennan","year":"2005","journal-title":"Trends Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib2","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1097\/00019052-200110000-00012","article-title":"Molecular mechanisms in spinal muscular atrophy: models and perspectives","volume":"14","author":"Sendtner","year":"2001","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.molmed.2006.01.005_bib3","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1101\/gad.1048803","article-title":"Pre-mRNA splicing and human disease","volume":"17","author":"Faustino","year":"2003","journal-title":"Genes Dev."},{"key":"10.1016\/j.molmed.2006.01.005_bib4","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1111\/j.1750-3639.2001.tb00395.x","article-title":"Spinal muscular atrophy: present state","volume":"11","author":"Schmalbruch","year":"2001","journal-title":"Brain Pathol."},{"key":"10.1016\/j.molmed.2006.01.005_bib5","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1007\/s001090050059","article-title":"Spinal muscular atrophies: recent insights and impact on molecular diagnosis","volume":"74","author":"Brahe","year":"1996","journal-title":"J. Mol. Med."},{"key":"10.1016\/j.molmed.2006.01.005_bib6","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":"10.1016\/j.molmed.2006.01.005_bib7","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/hmg\/9.2.259","article-title":"An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN","volume":"9","author":"Lorson","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib8","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ng0797-265","article-title":"Correlation between severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib9","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. U. S. A."},{"key":"10.1016\/j.molmed.2006.01.005_bib10","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. U. S. A."},{"key":"10.1016\/j.molmed.2006.01.005_bib11","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1093\/hmg\/8.7.1177","article-title":"A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2","volume":"8","author":"Monani","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib12","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":"10.1016\/j.molmed.2006.01.005_bib13","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":"10.1016\/j.molmed.2006.01.005_bib14","doi-asserted-by":"crossref","first-page":"9618","DOI":"10.1073\/pnas.160181697","article-title":"Htra2-\u03b21 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. U. S. A."},{"key":"10.1016\/j.molmed.2006.01.005_bib15","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1093\/hmg\/11.5.577","article-title":"SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2\u03b21","volume":"11","author":"Young","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib16","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1086\/498853","article-title":"Determinants of exon 7 identity in the spinal muscular atrophy genes, SMN1 and SMN2","volume":"78","author":"Cartegni","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib17","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1093\/hmg\/9.5.663","article-title":"The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1","volume":"9","author":"Hannus","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib18","doi-asserted-by":"crossref","first-page":"23841","DOI":"10.1074\/jbc.M001441200","article-title":"The survival motor neuron protein of Schizosacharomyces pombe. Conservation of survival motor neuron interaction domains in divergent organisms","volume":"275","author":"Paushkin","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.molmed.2006.01.005_bib19","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/S0014-5793(00)02243-2","article-title":"Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila","volume":"486","author":"Miguel-Aliaga","year":"2000","journal-title":"FEBS Lett."},{"key":"10.1016\/j.molmed.2006.01.005_bib20","doi-asserted-by":"crossref","first-page":"2133","DOI":"10.1093\/hmg\/8.12.2133","article-title":"The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability","volume":"8","author":"Miguel-Aliaga","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib21","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/71709","article-title":"A mouse model for spinal muscular atrophy","volume":"24","author":"Hsieh-Li","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib22","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1093\/hmg\/9.3.341","article-title":"Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III","volume":"9","author":"Jablonka","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib23","doi-asserted-by":"crossref","first-page":"2451","DOI":"10.1093\/hmg\/9.16.2451","article-title":"Animal models of spinal muscular atrophy","volume":"9","author":"Monani","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib24","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":"10.1016\/j.molmed.2006.01.005_bib25","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1002\/mus.10050","article-title":"Motor unit number estimation in infants and children with spinal muscular atrophy","volume":"25","author":"Bromberg","year":"2002","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.molmed.2006.01.005_bib26","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1093\/hmg\/9.5.849","article-title":"Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy","volume":"9","author":"Frugier","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib27","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1083\/jcb.152.5.1107","article-title":"Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy","volume":"152","author":"Cifuentes-Diaz","year":"2001","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib28","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1002\/neu.10313","article-title":"Axonal defects in mouse models of motoneuron disease","volume":"58","author":"Jablonka","year":"2004","journal-title":"J. Neurobiol."},{"key":"10.1016\/j.molmed.2006.01.005_bib29","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1083\/jcb.200304128","article-title":"Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of \u03b2-actin mRNA in growth cones of motoneurons","volume":"163","author":"Rossoll","year":"2003","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib30","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1083\/jcb.200303168","article-title":"Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding","volume":"162","author":"McWhorter","year":"2003","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib31","doi-asserted-by":"crossref","first-page":"3629","DOI":"10.1093\/hmg\/ddi390","article-title":"The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation","volume":"14","author":"Gabanella","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib32","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1093\/hmg\/10.5.497","article-title":"Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy","volume":"10","author":"Jablonka","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib33","doi-asserted-by":"crossref","first-page":"3555","DOI":"10.1002\/j.1460-2075.1996.tb00725.x","article-title":"A novel nuclear structure containing the survival of motor neurons protein","volume":"15","author":"Liu","year":"1996","journal-title":"EMBO J."},{"key":"10.1016\/j.molmed.2006.01.005_bib34","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1083\/jcb.147.4.715","article-title":"The spinal muscular atrophy disease gene product, SMN: a link between snRNP biogenesis and the Cajal (coiled) body","volume":"147","author":"Carvalho","year":"1999","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib35","doi-asserted-by":"crossref","first-page":"R503","DOI":"10.1016\/S0960-9822(03)00438-X","article-title":"Cajal bodies","volume":"13","author":"Matera","year":"2003","journal-title":"Curr. Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib36","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/j.yexcr.2003.08.022","article-title":"Ultrastructural characterisation of a nuclear domain highly enriched in survival of motor neuron (SMN) protein","volume":"292","author":"Malatesta","year":"2004","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.molmed.2006.01.005_bib37","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1016\/S0962-8924(02)02371-1","article-title":"SMN-mediated assembly of RNPs: a complex story","volume":"12","author":"Meister","year":"2002","journal-title":"Trends Cell Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib38","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.yexcr.2004.03.022","article-title":"The SMN complex","volume":"296","author":"Gubitz","year":"2004","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.molmed.2006.01.005_bib39","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/S0955-0674(00)00211-8","article-title":"Spliceosomal UsnRNP biogenesis, structure and function","volume":"13","author":"Will","year":"2001","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib40","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1038\/ncb1101-945","article-title":"A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs","volume":"3","author":"Meister","year":"2001","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib41","doi-asserted-by":"crossref","first-page":"1775","DOI":"10.1126\/science.1074962","article-title":"Essential role for the SMN complex in the specificity of snRNP assembly","volume":"298","author":"Pellizzoni","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.molmed.2006.01.005_bib42","doi-asserted-by":"crossref","first-page":"5853","DOI":"10.1093\/emboj\/cdf585","article-title":"Assisted RNP assembly: SMN and PRMT5 complexes cooperate in the formation of spliceosomal UsnRNPs","volume":"21","author":"Meister","year":"2002","journal-title":"EMBO J."},{"key":"10.1016\/j.molmed.2006.01.005_bib43","doi-asserted-by":"crossref","first-page":"1990","DOI":"10.1016\/S0960-9822(01)00592-9","article-title":"Methylation of Sm proteins by a complex containing PRMT5 and the putative U snRNP assembly factor pICln","volume":"11","author":"Meister","year":"2001","journal-title":"Curr. Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib44","doi-asserted-by":"crossref","first-page":"8289","DOI":"10.1128\/MCB.21.24.8289-8300.2001","article-title":"The methylosome, a 20S complex containing JBP1 and pICln, produces dimethylarginine-modified Sm proteins","volume":"21","author":"Friesen","year":"2001","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib45","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.molcel.2004.09.024","article-title":"Coupled in vitro import of U snRNPs and SMN, the spinal muscular atrophy protein","volume":"16","author":"Narayanan","year":"2004","journal-title":"Mol. Cell"},{"key":"10.1016\/j.molmed.2006.01.005_bib46","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1101\/gad.274403","article-title":"Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing","volume":"17","author":"Pillai","year":"2003","journal-title":"Genes Dev."},{"key":"10.1016\/j.molmed.2006.01.005_bib47","doi-asserted-by":"crossref","first-page":"R862","DOI":"10.1016\/S0960-9822(01)00517-6","article-title":"Macromolecular complexes: SMN \u2013 the master assembler","volume":"11","author":"Terns","year":"2001","journal-title":"Curr. Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib48","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.1093\/hmg\/9.13.1977","article-title":"Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins","volume":"9","author":"Meister","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib49","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/S0092-8674(00)81632-3","article-title":"A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing","volume":"95","author":"Pellizzoni","year":"1998","journal-title":"Cell"},{"key":"10.1016\/j.molmed.2006.01.005_bib50","doi-asserted-by":"crossref","first-page":"5443","DOI":"10.1093\/emboj\/20.19.5443","article-title":"SMN interacts with a novel family of hnRNP and spliceosomal proteins","volume":"20","author":"Mourelatos","year":"2001","journal-title":"EMBO J."},{"key":"10.1016\/j.molmed.2006.01.005_bib51","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1083\/jcb.152.1.75","article-title":"A functional interaction between the survival motor neuron complex and RNA polymerase II","volume":"152","author":"Pellizzoni","year":"2001","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib52","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1093\/hmg\/8.7.1219","article-title":"Identification of survival motor neuron as a transcriptional activator-binding protein","volume":"8","author":"Strasswimmer","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib53","doi-asserted-by":"crossref","first-page":"11781","DOI":"10.1128\/JVI.75.23.11781-11790.2001","article-title":"Functional cooperation of Epstein\u2013Barr virus nuclear antigen 2 and the survival motor neuron protein in transactivation of the viral LMP1 promoter","volume":"75","author":"Voss","year":"2001","journal-title":"J. Virol."},{"key":"10.1016\/j.molmed.2006.01.005_bib54","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1093\/hmg\/9.7.1093","article-title":"Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?","volume":"9","author":"Campbell","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib55","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1128\/MCB.23.1.414-423.2003","article-title":"A novel domain within the DEAD-box protein DP103 is essential for transcriptional repression and helicase activity","volume":"23","author":"Yan","year":"2003","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib56","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1093\/hmg\/11.1.93","article-title":"Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp\/hnRNP-Q: a role for Smn in RNA processing in motor axons?","volume":"11","author":"Rossoll","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib57","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":"10.1016\/j.molmed.2006.01.005_bib58","doi-asserted-by":"crossref","first-page":"37908","DOI":"10.1074\/jbc.274.53.37908","article-title":"A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with SMN in nuclear gems","volume":"274","author":"Giesemann","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.molmed.2006.01.005_bib59","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.yexcr.2005.05.014","article-title":"A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells","volume":"309","author":"Sharma","year":"2005","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.molmed.2006.01.005_bib60","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1002\/bies.20283","article-title":"Is spinal muscular atrophy the result of defects in motor neuron processes?","volume":"27","author":"Briese","year":"2005","journal-title":"Bioessays"},{"key":"10.1016\/j.molmed.2006.01.005_bib61","doi-asserted-by":"crossref","first-page":"5543","DOI":"10.1128\/MCB.25.13.5543-5551.2005","article-title":"The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy","volume":"25","author":"Wan","year":"2005","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib62","doi-asserted-by":"crossref","first-page":"2320","DOI":"10.1101\/gad.342005","article-title":"Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy","volume":"19","author":"Winkler","year":"2005","journal-title":"Genes Dev."},{"key":"10.1016\/j.molmed.2006.01.005_bib63","doi-asserted-by":"crossref","first-page":"17372","DOI":"10.1073\/pnas.0508947102","article-title":"Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins","volume":"102","author":"Shpargel","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.molmed.2006.01.005_bib64","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1093\/hmg\/ddi168","article-title":"Gemins modulate the expression and activity of the SMN complex","volume":"14","author":"Feng","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib65","doi-asserted-by":"crossref","first-page":"10126","DOI":"10.1073\/pnas.152318699","article-title":"Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death","volume":"99","author":"Jablonka","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.molmed.2006.01.005_bib66","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/S0959-4388(99)00021-5","article-title":"Conservation and divergence of axon guidance mechanisms","volume":"9","author":"Chisholm","year":"1999","journal-title":"Curr. Opin. Neurobiol."},{"key":"10.1016\/j.molmed.2006.01.005_bib67","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1007\/s000180050377","article-title":"Axon guidance at the central nervous system midline","volume":"55","author":"Tear","year":"1999","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.molmed.2006.01.005_bib68","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1002\/mus.10455","article-title":"Riluzole attenuates spinal muscular atrophy disease progression in a mouse model","volume":"28","author":"Haddad","year":"2003","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.molmed.2006.01.005_bib69","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1111\/j.1750-3639.2000.tb00262.x","article-title":"Neuroprotection by the inhibition of apoptosis","volume":"10","author":"Robertson","year":"2000","journal-title":"Brain Pathol."},{"key":"10.1016\/j.molmed.2006.01.005_bib70","doi-asserted-by":"crossref","first-page":"1601","DOI":"10.1001\/archneur.60.11.1601","article-title":"A phase 1 trial of riluzole in spinal muscular atrophy","volume":"60","author":"Russman","year":"2003","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.molmed.2006.01.005_bib71","doi-asserted-by":"crossref","first-page":"1726","DOI":"10.1172\/JCI22922","article-title":"Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy","volume":"114","author":"Azzouz","year":"2004","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.molmed.2006.01.005_bib72","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1016\/j.chembiol.2005.09.005","article-title":"Chemical genetics and orphan genetic diseases","volume":"12","author":"Lunn","year":"2005","journal-title":"Chem. Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib73","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. U. S. A."},{"key":"10.1016\/j.molmed.2006.01.005_bib74","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1002\/ana.10743","article-title":"Valproic acid increases SMN levels in spinal muscular atrophy patient cells","volume":"54","author":"Sumner","year":"2003","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.molmed.2006.01.005_bib75","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":"10.1016\/j.molmed.2006.01.005_bib76","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/sj.ejhg.5201102","article-title":"Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy","volume":"12","author":"Andreassi","year":"2004","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib77","doi-asserted-by":"crossref","first-page":"2841","DOI":"10.1093\/hmg\/10.24.2841","article-title":"Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients","volume":"10","author":"Andreassi","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib78","doi-asserted-by":"crossref","first-page":"2003","DOI":"10.1093\/hmg\/ddi205","article-title":"Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy","volume":"14","author":"Jarecki","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib79","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1016\/j.chembiol.2004.08.024","article-title":"Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism","volume":"11","author":"Lunn","year":"2004","journal-title":"Chem. Biol."},{"key":"10.1016\/j.molmed.2006.01.005_bib80","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.nmd.2003.11.006","article-title":"Pilot trial of phenylbutyrate in spinal muscular atrophy","volume":"14","author":"Mercuri","year":"2004","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.molmed.2006.01.005_bib81","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1038\/sj.ejhg.5201320","article-title":"Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients","volume":"13","author":"Brahe","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib82","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1007\/BF03401830","article-title":"Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes","volume":"6","author":"Baron-Delage","year":"2000","journal-title":"Mol. Med."},{"key":"10.1016\/j.molmed.2006.01.005_bib83","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1093\/hmg\/ddi078","article-title":"SMN\u03947, 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":"10.1016\/j.molmed.2006.01.005_bib84","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. U. S. A."},{"key":"10.1016\/j.molmed.2006.01.005_bib85","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":"10.1016\/j.molmed.2006.01.005_bib86","doi-asserted-by":"crossref","unstructured":"Madocsai, C. et al. (2005) Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs. Mol. Ther. 12, 1013\u20131-22","DOI":"10.1016\/j.ymthe.2005.08.022"},{"key":"10.1016\/j.molmed.2006.01.005_bib87","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":"10.1016\/j.molmed.2006.01.005_bib88","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/sj.embor.7400301","article-title":"Phosphorylation regulates the activity of the SMN complex during assembly of spliceosomal U snRNPs","volume":"6","author":"Grimmler","year":"2005","journal-title":"EMBO Rep."},{"key":"10.1016\/j.molmed.2006.01.005_bib89","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/S0968-0004(00)01549-8","article-title":"Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases","volume":"25","author":"Blencowe","year":"2000","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.molmed.2006.01.005_bib90","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/S1097-2765(03)00270-3","article-title":"Pre-mRNA splicing: awash in a sea of proteins","volume":"12","author":"Jurica","year":"2003","journal-title":"Mol. Cell"},{"key":"10.1016\/j.molmed.2006.01.005_bib91","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1146\/annurev.genet.36.043002.091635","article-title":"Allosteric cascade of spliceosome activation","volume":"36","author":"Brow","year":"2002","journal-title":"Annu. Rev. Genet."},{"key":"10.1016\/j.molmed.2006.01.005_bib92","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/S0092-8674(00)80550-4","article-title":"Crystal structures of two Sm protein complexes and their implications for the assembly of the spliceosomal snRNPs","volume":"96","author":"Kambach","year":"1999","journal-title":"Cell"},{"key":"10.1016\/j.molmed.2006.01.005_bib93","doi-asserted-by":"crossref","first-page":"5949","DOI":"10.1242\/jcs.01487","article-title":"Biogenesis of small nuclear RNPs","volume":"117","author":"Kiss","year":"2004","journal-title":"J. Cell Sci."}],"container-title":["Trends in Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1471491406000232?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1471491406000232?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T18:18:24Z","timestamp":1555438704000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1471491406000232"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,3]]},"references-count":93,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2006,3]]}},"alternative-id":["S1471491406000232"],"URL":"https:\/\/doi.org\/10.1016\/j.molmed.2006.01.005","relation":{},"ISSN":["1471-4914"],"issn-type":[{"value":"1471-4914","type":"print"}],"subject":[],"published":{"date-parts":[[2006,3]]}}}