{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T09:26:37Z","timestamp":1790760397302,"version":"4.1.0"},"reference-count":82,"publisher":"Elsevier BV","issue":"11-12","license":[{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms"],"published-print":{"date-parts":[[2019,11]]},"DOI":"10.1016\/j.bbagrm.2019.07.004","type":"journal-article","created":{"date-parts":[[2019,7,16]],"date-time":"2019-07-16T02:07:58Z","timestamp":1563242878000},"page":"194403","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":29,"title":["How RNA structure dictates the usage of a critical exon of spinal muscular atrophy gene"],"prefix":"10.1016","volume":"1862","author":[{"given":"Natalia N.","family":"Singh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravindra N.","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbagrm.2019.07.004_bb0005","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/nature08909","article-title":"Expansion of the eukaryotic proteome by alternative splicing","volume":"463","author":"Nilsen","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0010","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.gene.2012.07.083","article-title":"Function of alternative splicing","volume":"514","author":"Kelemen","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0015","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.neuron.2015.05.004","article-title":"Alternative splicing in the mammalian nervous system: recent insights into mechanisms and functional roles","volume":"87","author":"Raj","year":"2015","journal-title":"Neuron"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0020","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1038\/nrm.2017.27","article-title":"Alternative splicing as a regulator of development and tissue identity","volume":"18","author":"Baralle","year":"2017","journal-title":"Nat. Rev. Mol. Cell. Biol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0025","doi-asserted-by":"crossref","first-page":"3671","DOI":"10.1093\/nar\/gky032","article-title":"Integrative transcriptome sequencing reveals extensive alternative trans-splicing and cis-backsplicing in human cells","volume":"46","author":"Chuang","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0030","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/j.tig.2017.04.004","article-title":"The dimensions, dynamics, and relevance of the mammalian noncoding transcriptome","volume":"33","author":"Deveson","year":"2017","journal-title":"Trends Genet."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0035","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1080\/15476286.2017.1409931","article-title":"Circular RNAs are abundantly expressed and upregulated during human epidermal stem cell differentiation","volume":"15","author":"Kristensen","year":"2018","journal-title":"RNA Biol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0040","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0049595","article-title":"A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes","volume":"7","author":"Singh","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0045","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0154390","article-title":"Oxidative stress triggers body-wide skipping of multiple exons of the spinal muscular atrophy gene","volume":"11","author":"Seo","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0050","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1038\/srep30778","article-title":"A novel human-specific splice isoform alters the critical C-terminus of survival motor neuron protein","volume":"6","author":"Seo","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0055","doi-asserted-by":"crossref","first-page":"2884","DOI":"10.1093\/nar\/gkz034","article-title":"Human survival motor neuron genes generate a vast repertoire of circular RNAs","volume":"47","author":"Ottesen","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0060","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.biocel.2017.07.013","article-title":"The role of alternative splicing coupled to nonsense-mediated mRNA decay in human disease","volume":"91","author":"da Costa","year":"2017","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0065","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.ijdevneu.2016.03.003","article-title":"Alternative splicing and nonsense-mediated mRNA decay enforce neural specific gene expression","volume":"55","author":"Zheng","year":"2016","journal-title":"Int. J. Dev. Neurosci."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0070","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1146\/annurev-biochem-060614-034316","article-title":"Mechanisms and regulation of alternative pre-mRNA splicing","volume":"84","author":"Lee","year":"2015","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0075","doi-asserted-by":"crossref","first-page":"2987","DOI":"10.1002\/1873-3468.13119","article-title":"Regulation of alternative mRNA splicing: old players and new perspectives","volume":"592","author":"Dvinge","year":"2018","journal-title":"FEBS Lett."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0080","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.0040021","article-title":"Intronic binding sites for hnRNP A\/B and hnRNP F\/H proteins stimulate pre-mRNA splicing","volume":"4","author":"Martinez-Contreras","year":"2006","journal-title":"PLoS Biol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0085","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.1000530","article-title":"iCLIP predicts the dual splicing effects of TIA-RNA interactions","volume":"8","author":"Wang","year":"2010","journal-title":"PLoS Biol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0090","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1261\/rna.2154310","article-title":"An antisense microwalk reveals critical role of an intronic position linked to a unique long-distance interaction in pre mRNA splicing","volume":"16","author":"Singh","year":"2010","journal-title":"RNA"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0095","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1261\/rna.037044.112","article-title":"Position-dependent splicing activation and repression by SR and hnRNP proteins rely on common mechanisms","volume":"19","author":"Erkelenz","year":"2013","journal-title":"RNA"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0100","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1038\/nrg3778","article-title":"Context-dependent control of alternative splicing by RNA-binding proteins","volume":"15","author":"Fu","year":"2014","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0105","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1016\/j.molcel.2018.07.033","article-title":"Quantitative activity profile and context dependence of all human 5\u2032 splice sites","volume":"71","author":"Wong","year":"2018","journal-title":"Mol. Cell"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0110","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.0030204","article-title":"Pre-mRNA secondary structures influence exon recognition","volume":"3","author":"Hiller","year":"2007","journal-title":"PLoS Genet."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0115","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1093\/nar\/gkl1050","article-title":"Modulating role of a RNA structure in skipping of a critical exon in the spinal muscular atrophy genes","volume":"35","author":"Singh","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0120","doi-asserted-by":"crossref","first-page":"4369","DOI":"10.1093\/nar\/gkm447","article-title":"RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events","volume":"35","author":"Buratti","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0125","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.tibs.2009.10.004","article-title":"Role of RNA structure in regulating pre-mRNA splicing","volume":"35","author":"Warf","year":"2010","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0130","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1261\/rna.029249.111","article-title":"Evidence for widespread association of mammalian splicing and conserved long-range RNA structures","volume":"18","author":"Pervouchine","year":"2012","journal-title":"RNA"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0135","doi-asserted-by":"crossref","first-page":"8144","DOI":"10.1093\/nar\/gkt609","article-title":"An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy","volume":"41","author":"Singh","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0140","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1111\/nyas.12727","article-title":"Splicing regulation in spinal muscular atrophy by a RNA structure formed by long distance interactions","volume":"1341","author":"Singh","year":"2015","journal-title":"Ann. N.Y. Acad. Sci."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0145","doi-asserted-by":"crossref","DOI":"10.1002\/wrna.1478","article-title":"A 360\u00b0 view of circular RNAs: from biogenesis to functions","volume":"9","author":"Wilusz","year":"2018","journal-title":"Wiley Interdiscip. Rev. RNA"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0150","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1038\/nrg3049","article-title":"Understanding the transcriptome through RNA structure","volume":"12","author":"Wan","year":"2011","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0155","doi-asserted-by":"crossref","first-page":"1688","DOI":"10.15252\/embr.201540955","article-title":"A conformational RNA zipper promotes intron ejection during non-conventional XBP1 mRNA splicing","volume":"16","author":"Peschek","year":"2015","journal-title":"EMBO Rep."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0160","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.molcel.2017.06.006","article-title":"Body temperature cycles control rhythmic alternative splicing in mammals","volume":"67","author":"Preu\u00dfner","year":"2017","journal-title":"Mol. Cell."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0165","doi-asserted-by":"crossref","first-page":"2623","DOI":"10.1016\/j.jmb.2016.04.017","article-title":"Coupling of RNA polymerase II transcription elongation with pre-mRNA splicing","volume":"428","author":"Saldi","year":"2016","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0170","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/j.bbagrm.2012.08.005","article-title":"Transcriptional elongation and alternative splicing","volume":"1829","author":"Dujardin","year":"2013","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0175","doi-asserted-by":"crossref","first-page":"3370","DOI":"10.1016\/j.febslet.2015.08.002","article-title":"Chromatin, DNA structure and alternative splicing","volume":"589","author":"Nieto Moreno","year":"2015","journal-title":"FEBS Lett."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0180","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.tibs.2015.12.009","article-title":"A two-way street: regulatory interplay between RNA polymerase and nascent RNA structure","volume":"41","author":"Zhang","year":"2016","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0185","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.bbagrm.2019.07.004_bb0190","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/j.bbagrm.2016.12.008","article-title":"Diverse role of survival motor neuron protein","volume":"1860","author":"Singh","year":"2017","journal-title":"Biochim. Biophys. Acta Gene Regul. Mech."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0195","first-page":"10983","article-title":"High-affinity RNA targets of the Survival Motor Neuron protein reveal diverse preferences for sequence and structural motifs","volume":"46","author":"Ottesen","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0200","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/978-3-319-89689-2_6","article-title":"RNP assembly defects in spinal muscular atrophy","volume":"20","author":"Price","year":"2018","journal-title":"Adv. Neurobiol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0205","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":"11","author":"Lorson","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0210","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.bbagrm.2019.07.004_bb0215","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":"10.1016\/j.bbagrm.2019.07.004_bb0220","doi-asserted-by":"crossref","first-page":"600","DOI":"10.4161\/rna.8.4.16224","article-title":"Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model","volume":"8","author":"Singh","year":"2011","journal-title":"RNA Biol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0225","series-title":"Spinal Muscular Atrophy: Disease Mechanisms and Therapy","first-page":"75","article-title":"Transcription and splicing regulation of spinal muscular atrophy genes","author":"Singh","year":"2017"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0230","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/978-3-319-89689-2_2","article-title":"Mechanism of splicing regulation of spinal muscular atrophy genes","volume":"20","author":"Singh","year":"2018","journal-title":"Adv. Neurobiol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0235","doi-asserted-by":"crossref","first-page":"39","DOI":"10.4137\/JEN.S33122","article-title":"Molecular mechanisms of neurodegeneration in spinal muscular atrophy","volume":"10","author":"Ahmad","year":"2016","journal-title":"J. Exp. Neurosci."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0240","doi-asserted-by":"crossref","first-page":"779","DOI":"10.2174\/1566524016666161128113338","article-title":"Spinal muscular atrophy: more than a disease of motor neurons?","volume":"16","author":"Nash","year":"2016","journal-title":"Curr. Mol. Med."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0245","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0213680","article-title":"Systemic nature of spinal muscular atrophy revealed by studying insurance claims","volume":"14","author":"Lipnick","year":"2019","journal-title":"PLoS One"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0250","doi-asserted-by":"crossref","first-page":"20193","DOI":"10.1038\/srep20193","article-title":"Severe impairment of male reproductive organ development in a low SMN expressing mouse model of spinal muscular atrophy","volume":"6","author":"Ottesen","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0255","doi-asserted-by":"crossref","first-page":"7183","DOI":"10.1038\/s41598-017-07468-2","article-title":"TIA1 is a gender-specific disease modifier of a mild mouse model of spinal muscular atrophy","volume":"7","author":"Howell","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0260","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1016\/j.ymthe.2017.03.036","article-title":"Gender-specific amelioration of SMA phenotype upon disruption of a deep intronic structure by an oligonucleotide","volume":"25","author":"Howell","year":"2017","journal-title":"Mol. Ther."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0265","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1515\/tnsci-2017-0001","article-title":"ISS-N1 makes the first FDA-approved drug for spinal muscular atrophy","volume":"8","author":"Ottesen","year":"2017","journal-title":"Transl. Neurosci."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0270","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1038\/gt.2017.34","article-title":"How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy","volume":"24","author":"Singh","year":"2017","journal-title":"Gene Ther."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0275","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1128\/MCB.26.4.1333-1346.2006","article-title":"Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron","volume":"26","author":"Singh","year":"2006","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0280","doi-asserted-by":"crossref","first-page":"1793","DOI":"10.4155\/fmc.15.101","article-title":"Mechanistic principles of antisense targets for the treatment of spinal muscular atrophy","volume":"7","author":"Singh","year":"2015","journal-title":"Future Med. Chem."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0285","doi-asserted-by":"crossref","first-page":"341","DOI":"10.4161\/rna.6.3.8723","article-title":"A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy","volume":"6","author":"Singh","year":"2009","journal-title":"RNA Biol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0290","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":"10.1016\/j.bbagrm.2019.07.004_bb0295","doi-asserted-by":"crossref","first-page":"12214","DOI":"10.1093\/nar\/gkx824","article-title":"Activation of a cryptic 5\u2032 splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene","volume":"45","author":"Singh","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0300","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1128\/MCB.00945-10","article-title":"TIA1 prevents skipping of a critical exon associated with spinal muscular atrophy","volume":"1","author":"Singh","year":"2011","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0305","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.ajhg.2014.12.009","article-title":"Improvement of SMN2 pre-mRNA processing mediated by exon-specific-U1-small nuclear RNA","volume":"96","author":"Dal Mas","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0310","doi-asserted-by":"crossref","first-page":"11168","DOI":"10.1038\/ncomms11168","article-title":"Therapeutic activity of modified U1 core spliceosomal particles","volume":"7","author":"Rogalska","year":"2016","journal-title":"Nat. Commun."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0315","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1016\/j.bbagrm.2019.04.004","article-title":"A novel role of U1 snRNP: splice site selection from a distance","volume":"1862","author":"Singh","year":"2019","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0320","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1038\/nchembio.1837","article-title":"SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice","volume":"11","author":"Palacino","year":"2015","journal-title":"Nat. Chem. Biol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0325","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1038\/s41467-017-01559-4","article-title":"Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers","volume":"8","author":"Sivaramakrishnan","year":"2017","journal-title":"Nat. Commun."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0330","first-page":"E4604","article-title":"Mechanistic studies of a small-molecule modulator of SMN2 splicing","volume":"115","author":"Wang","year":"2018","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0335","doi-asserted-by":"crossref","first-page":"2032","DOI":"10.1038\/s41467-018-04110-1","article-title":"Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes","volume":"9","author":"Garcia-Lopez","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0340","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":"10.1016\/j.bbagrm.2019.07.004_bb0345","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.bbrc.2004.01.067","article-title":"An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy","volume":"315","author":"Singh","year":"2004","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0350","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.bbagrm.2019.07.004_bb0355","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.bbagrm.2019.07.004_bb0360","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.0050073","article-title":"Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon","volume":"5","author":"Hua","year":"2007","journal-title":"PLoS Biol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0365","doi-asserted-by":"crossref","first-page":"3263","DOI":"10.2741\/2310","article-title":"Unfolding the mystery of alternative splicing through a unique method of in vivo selection","volume":"12","author":"Singh","year":"2007","journal-title":"Front. Biosci."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0370","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1261\/rna.7580704","article-title":"In vivo selection reveals features of combinatorial control that defines a critical exon in the spinal muscular atrophy genes","volume":"10","author":"Singh","year":"2004","journal-title":"RNA"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0375","doi-asserted-by":"crossref","DOI":"10.1126\/science.1254806","article-title":"RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease","volume":"347","author":"Xiong","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0380","doi-asserted-by":"crossref","DOI":"10.1038\/mtna.2014.23","article-title":"A short antisense oligonucleotide ameliorates symptoms of severe mouse models of spinal muscular atrophy","volume":"3","author":"Keil","year":"2014","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0385","doi-asserted-by":"crossref","first-page":"5464","DOI":"10.1093\/hmg\/ddu271","article-title":"PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1\/DM20 alternative splicing","volume":"23","author":"Taube","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0390","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1186\/gb-2011-12-12-236","article-title":"Alu elements: know the SINEs","volume":"12","author":"Deininger","year":"2011","journal-title":"Genome Biol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0395","doi-asserted-by":"crossref","first-page":"R28","DOI":"10.1186\/gb-2014-15-2-r28","article-title":"Alu elements shape the primate transcriptome by cis-regulation of RNA editing","volume":"15","author":"Daniel","year":"2014","journal-title":"Genome Biol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0400","doi-asserted-by":"crossref","first-page":"2252","DOI":"10.3389\/fmicb.2017.02252","article-title":"A multilayered control of the human Survival Motor Neuron gene expression by Alu elements","volume":"8","author":"Ottesen","year":"2017","journal-title":"Front. Microbiol."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0405","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/2159256X.2015.1045682","article-title":"Repetitive elements regulate circular RNA biogenesis","volume":"5","author":"Wilusz","year":"2015","journal-title":"Mob. Genet. Elem."},{"key":"10.1016\/j.bbagrm.2019.07.004_bb0410","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/j.cell.2014.09.001","article-title":"Complementary sequence-mediated exon circularization","volume":"159","author":"Zhang","year":"2014","journal-title":"Cell"}],"container-title":["Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1874939918305108?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1874939918305108?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T13:30:03Z","timestamp":1761744603000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1874939918305108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11]]},"references-count":82,"journal-issue":{"issue":"11-12","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["S1874939918305108"],"URL":"https:\/\/doi.org\/10.1016\/j.bbagrm.2019.07.004","relation":{},"ISSN":["1874-9399"],"issn-type":[{"value":"1874-9399","type":"print"}],"subject":[],"published":{"date-parts":[[2019,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"How RNA structure dictates the usage of a critical exon of spinal muscular atrophy gene","name":"articletitle","label":"Article Title"},{"value":"Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbagrm.2019.07.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"194403"}}