{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T00:57:55Z","timestamp":1780621075793,"version":"3.54.1"},"reference-count":61,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T00:00:00Z","timestamp":1666051200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2021M691629"],"award-info":[{"award-number":["2021M691629"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81530035"],"award-info":[{"award-number":["81530035"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81471298"],"award-info":[{"award-number":["81471298"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81271423"],"award-info":[{"award-number":["81271423"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,3,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spinal muscular atrophy (SMA) is a fatal neuromuscular disease caused by homozygous deletions or mutations of the SMN1 gene. SMN2 is a paralogous gene of SMN1 and a modifying gene of SMA. A better understanding of how SMN2 exon 7 splicing is regulated helps discover new therapeutic targets for SMA therapy. Based on an antisense walk method to map exonic and intronic splicing silencers (ESSs and ISSs) in SMN2 exon 7 and the proximal regions of its flanking introns, we identified one ISS (ISS6-KH) at upstream of the branch point site in intron 6. By using mutagenesis-coupled RT-PCR with SMN1\/2 minigenes, immunochromatography, overexpression and siRNA-knockdown, we found this ISS consists of a bipartite hnRNP A1 binding cis-element and a poly-U sequence located between the proximal hnRNP A1 binding site (UAGCUA) and the branch site. Both HuR and hnRNP C1 proteins promote exon 7 skipping through the poly-U stretch. Mutations or deletions of these motifs lead to efficient SMN2 exon 7 inclusion comparable to SMN1 gene. Furthermore, we identified an optimal antisense oligonucleotide that binds the intron six ISS and causes striking exon 7 inclusion in the SMN2 gene in patient fibroblasts and SMA mouse model. Our findings demonstrate that this novel ISS plays an important role in SMN2 exon 7 skipping and highlight a new therapeutic target for SMA therapy.<\/jats:p>","DOI":"10.1093\/hmg\/ddac260","type":"journal-article","created":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T15:36:29Z","timestamp":1666107389000},"page":"971-983","source":"Crossref","is-referenced-by-count":6,"title":["A splicing silencer in<i>SMN2<\/i>intron 6 is critical in spinal muscular atrophy"],"prefix":"10.1093","volume":"32","author":[{"given":"Li","family":"Wang","sequence":"first","affiliation":[{"name":"Nanjing Normal University Jiangsu Key Laboratory for Molecular and Medical Biotechnology, College of Life Sciences, , Nanjing 210023 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yinfeng","family":"Ji","sequence":"additional","affiliation":[{"name":"Nanjing Normal University Jiangsu Key Laboratory for Molecular and Medical Biotechnology, College of Life Sciences, , Nanjing 210023 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuqing","family":"Chen","sequence":"additional","affiliation":[{"name":"Nanjing Normal University Jiangsu Key Laboratory for Molecular and Medical Biotechnology, College of Life Sciences, , Nanjing 210023 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jialin","family":"Bai","sequence":"additional","affiliation":[{"name":"Nanjing Normal University Jiangsu Key Laboratory for Molecular and Medical Biotechnology, College of Life Sciences, , Nanjing 210023 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Gao","sequence":"additional","affiliation":[{"name":"Nanjing Normal University Jiangsu Key Laboratory for Molecular and Medical Biotechnology, College of Life Sciences, , Nanjing 210023 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pengchao","family":"Feng","sequence":"additional","affiliation":[{"name":"Nanjing Antisense Biopharmaceutical Co., Ltd , Nanjing 210046 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,10,18]]},"reference":[{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/nrm760","article-title":"Messenger-RNA-binding proteins and the messages they carry","volume":"3","author":"Dreyfuss","year":"2002","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/S0955-0674(99)80051-9","article-title":"hnRNP complexes: composition, structure, and function","volume":"11","author":"Krecic","year":"1999","journal-title":"Curr. Opin. Cell Biol."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1002\/j.1460-2075.1994.tb06369.x","article-title":"RNA binding specificity of hnRNP A1: significance of hnRNP A1 high-affinity binding sites in pre-mRNA splicing","volume":"13","author":"Burd","year":"1994","journal-title":"EMBO J."},{"key":"2023030719030561500_","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":"2023030719030561500_","first-page":"764","article-title":"Mutation of PTB binding sites causes misregulation of alternative 3\u2032 splice site selection in vivo","volume":"3","author":"Perez","year":"1997","journal-title":"RNA"},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"4667","DOI":"10.1128\/MCB.17.8.4667","article-title":"The polypyrimidine tract binding protein binds upstream of neural cell-specific c-src exon N1 to repress the splicing of the intron downstream","volume":"17","author":"Chan","year":"1997","journal-title":"Mol. Cell. Biol."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"3281","DOI":"10.1128\/MCB.21.10.3281-3288.2001","article-title":"Polypyrimidine tract binding protein antagonizes exon definition","volume":"21","author":"Wagner","year":"2001","journal-title":"Mol. Cell. Biol."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"43850","DOI":"10.1074\/jbc.M102861200","article-title":"Determination of the RNA binding specificity of the heterogeneous nuclear ribonucleoprotein (hnRNP) H\/H'\/F\/2H9 family","volume":"276","author":"Caputi","year":"2001","journal-title":"J. Biol. Chem."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1093\/emboj\/21.4.845","article-title":"SR proteins and hnRNP H regulate the splicing of the HIV-1 tev-specific exon 6D","volume":"21","author":"Caputi","year":"2002","journal-title":"EMBO J."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"2792","DOI":"10.1038\/sj.emboj.7600745","article-title":"HnRNP L represses exon splicing via a regulated exonic splicing silencer","volume":"24","author":"Rothrock","year":"2005","journal-title":"EMBO J."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.0030158","article-title":"A combinatorial code for splicing silencing: UAGG and GGGG motifs","volume":"3","author":"Han","year":"2005","journal-title":"PLoS Biol."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"5403","DOI":"10.1128\/MCB.00739-08","article-title":"hnRNP H and hnRNP F complex with Fox2 to silence fibroblast growth factor receptor 2 exon IIIc","volume":"28","author":"Mauger","year":"2008","journal-title":"Mol. Cell. Biol."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"6033","DOI":"10.1128\/MCB.00726-08","article-title":"Multiple and specific mRNA processing targets for the major human hnRNP proteins","volume":"28","author":"Venables","year":"2008","journal-title":"Mol. Cell. Biol."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"4606","DOI":"10.1128\/MCB.15.8.4606","article-title":"Presence of exon splicing silencers within human immunodeficiency virus type 1 tat exon 2 and tat-rev exon 3: evidence for inhibition mediated by cellular factors","volume":"15","author":"Amendt","year":"1995","journal-title":"Mol. Cell. Biol."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"4060","DOI":"10.1093\/emboj\/18.14.4060","article-title":"hnRNP A\/B proteins are required for inhibition of HIV-1 pre-mRNA splicing","volume":"18","author":"Caputi","year":"1999","journal-title":"EMBO J."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"1939","DOI":"10.1093\/emboj\/18.7.1939","article-title":"Modulation of exon skipping by high-affinity hnRNP A1-binding sites and by intron elements that repress splice site utilization","volume":"18","author":"Blanchette","year":"1999","journal-title":"EMBO J."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"5748","DOI":"10.1093\/emboj\/20.20.5748","article-title":"The hnRNP A1 protein regulates HIV-1 tat splicing via a novel intron silencer element","volume":"20","author":"Tange","year":"2001","journal-title":"EMBO J."},{"key":"2023030719030561500_","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":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"3426","DOI":"10.1073\/pnas.0700343104","article-title":"An intronic element contributes to splicing repression in spinal muscular atrophy","volume":"104","author":"Kashima","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"1351","DOI":"10.1016\/S1097-2765(01)00409-9","article-title":"Exon identity established through differential antagonism between exonic splicing silencer-bound hnRNP A1 and enhancer-bound SR proteins","volume":"8","author":"Zhu","year":"2001","journal-title":"Mol. Cell"},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"2783","DOI":"10.1074\/jbc.271.5.2783","article-title":"Individual RNA recognition motifs of TIA-1 and TIAR have different RNA binding specificities","volume":"271","author":"Dember","year":"1996","journal-title":"J. Biol. Chem."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"6882","DOI":"10.1093\/emboj\/cdf668","article-title":"The splicing regulator TIA-1 interacts with U1-C to promote U1 snRNP recruitment to 5\u2032 splice sites","volume":"21","author":"Forch","year":"2002","journal-title":"EMBO J."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1101\/gr.073155.107","article-title":"A systematic analysis of intronic sequences downstream of 5\u2032 splice sites reveals a widespread role for U-rich motifs and TIA1\/TIAL1 proteins in alternative splicing regulation","volume":"18","author":"Aznarez","year":"2008","journal-title":"Genome Res."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"9520","DOI":"10.1128\/MCB.25.21.9520-9531.2005","article-title":"Identification and functional outcome of mRNAs associated with RNA-binding protein TIA-1","volume":"25","author":"Lopez de Silanes","year":"2005","journal-title":"Mol. Cell. Biol."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"3168","DOI":"10.1007\/s00018-008-8252-6","article-title":"Diverse molecular functions of Hu proteins","volume":"65","author":"Hinman","year":"2008","journal-title":"Cell. Mol. Life Sci."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"5105","DOI":"10.1091\/mbc.e06-02-0099","article-title":"A nuclear function of Hu proteins as neuron-specific alternative RNA processing regulators","volume":"17","author":"Zhu","year":"2006","journal-title":"Mol. Biol. Cell"},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1128\/MCB.01509-07","article-title":"Regulation of neuron-specific alternative splicing of neurofibromatosis type 1 pre-mRNA","volume":"28","author":"Zhu","year":"2008","journal-title":"Mol. Cell. Biol."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"19077","DOI":"10.1074\/jbc.M800017200","article-title":"Hu antigen R (HuR) functions as an alternative pre-mRNA splicing regulator of Fas apoptosis-promoting receptor on exon definition","volume":"283","author":"Izquierdo","year":"2008","journal-title":"J. Biol. Chem."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/s12915-016-0279-9","article-title":"Global identification of hnRNP A1 binding sites for SSO-based splicing modulation","volume":"14","author":"Bruun","year":"2016","journal-title":"BMC Biol."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1002\/humu.24149","article-title":"Identification of SRSF10 as a regulator of SMN2 ISS-N1","volume":"42","author":"Frederiksen","year":"2021","journal-title":"Hum. Mutat."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"3545","DOI":"10.1021\/bi952298p","article-title":"Origins of binding specificity of the A1 heterogeneous nuclear ribonucleoprotein","volume":"35","author":"Abdul-Manan","year":"1996","journal-title":"Biochemistry"},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"14536","DOI":"10.1021\/ja507690d","article-title":"Structural and mechanistic insights into poly(uridine) tract recognition by the hnRNP C RNA recognition motif","volume":"136","author":"Cienikov\u00e1","year":"2014","journal-title":"J. Am. Chem. Soc."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"9926","DOI":"10.1073\/pnas.1500639112","article-title":"Splicing inhibition of U2AF65 leads to alternative exon skipping","volume":"112","author":"Cho","year":"2015","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2023030719030561500_","article-title":"Discriminating between HuR and TTP binding sites using the k-spectrum kernel method","volume":"12","author":"Bhandare","year":"2017","journal-title":"PLoS One"},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"2946","DOI":"10.3390\/ijms15022946","article-title":"HuR and TIA1\/TIAL1 are involved in regulation of alternative splicing of SIRT1 pre-mRNA","volume":"15","author":"Zhao","year":"2014","journal-title":"Int. J. Mol. Sci."},{"key":"2023030719030561500_","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":"2023030719030561500_","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":"31","author":"Singh","year":"2011","journal-title":"Mol. Cell. Biol."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"47119","DOI":"10.1074\/jbc.M308889200","article-title":"RNAi-mediated HuR depletion leads to the inhibition of muscle cell differentiation","volume":"278","author":"Giessen","year":"2003","journal-title":"J. Biol. Chem."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"2768","DOI":"10.1093\/hmg\/ddx166","article-title":"A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy","volume":"26","author":"Wu","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"2023030719030561500_","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":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1101\/gad.256644.114","article-title":"Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models","volume":"29","author":"Hua","year":"2015","journal-title":"Genes Dev."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1038\/gt.2017.64","article-title":"Development of gene therapies-lessons from nusinersen","volume":"24","author":"Xu","year":"2017","journal-title":"Gene Ther."},{"key":"2023030719030561500_","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":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.cell.2017.06.028","article-title":"Splicing-correcting therapy for SMA","volume":"170","author":"Wan","year":"2017","journal-title":"Cell"},{"key":"2023030719030561500_","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":"2023030719030561500_","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":"2023030719030561500_","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":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1002\/humu.21419","article-title":"SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3\u2032 splice site","volume":"32","author":"Doktor","year":"2011","journal-title":"Hum. Mutat."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.semcdb.2018.04.001","article-title":"Idiosyncrasies of hnRNP A1-RNA recognition: can binding mode influence function","volume":"86","author":"Levengood","year":"2019","journal-title":"Semin. Cell Dev. Biol."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/wrna.100","article-title":"Evolution of SR protein and hnRNP splicing regulatory factors","volume":"3","author":"Busch","year":"2012","journal-title":"Wiley Interdiscip. Rev. RNA"},{"key":"2023030719030561500_","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.25736","article-title":"Tandem hnRNP A1 RNA recognition motifs act in concert to repress the splicing of survival motor neuron exon 7","volume":"6","author":"Beusch","year":"2017","journal-title":"Elife"},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s11010-005-7644-2","article-title":"Regulation of urokinase receptor mRNA stability by hnRNP C in lung epithelial cells","volume":"272","author":"Shetty","year":"2005","journal-title":"Mol. Cell. Biochem."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1128\/MCB.23.2.708-720.2003","article-title":"Heterogeneous nuclear ribonucleoprotein C modulates translation of c-myc mRNA in a cell cycle phase-dependent manner","volume":"23","author":"Kim","year":"2003","journal-title":"Mol. Cell. Biol."},{"key":"2023030719030561500_","first-page":"E227","article-title":"HnRNP C1\/C2 may regulate exon 7 splicing in the spinal muscular atrophy gene SMN1","volume":"54","author":"Irimura","year":"2009","journal-title":"Kobe J. Med. Sci."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.molcel.2006.05.025","article-title":"Structural basis for polypyrimidine tract recognition by the essential pre-mRNA splicing factor U2AF65","volume":"23","author":"Sickmier","year":"2006","journal-title":"Mol. Cell"},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1016\/j.molcel.2011.06.008","article-title":"Transcriptome-wide analysis of regulatory interactions of the RNA-binding protein HuR","volume":"43","author":"Lebedeva","year":"2011","journal-title":"Mol. Cell"},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.gde.2012.12.006","article-title":"Mechanisms coordinating ELAV\/Hu mRNA regulons","volume":"23","author":"Simone","year":"2013","journal-title":"Curr. Opin. Genet. Dev."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1007\/978-1-61779-767-5_20","article-title":"Antisense-mediated exon inclusion","volume":"867","author":"Hua","year":"2012","journal-title":"Methods Mol. Biol."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1016\/j.yexcr.2007.10.012","article-title":"Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy","volume":"314","author":"DiMatteo","year":"2008","journal-title":"Exp. Cell Res."},{"key":"2023030719030561500_","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1080\/15476286.2019.1659080","article-title":"Modulation of PDCD1 exon 3 splicing","volume":"16","author":"Sun","year":"2019","journal-title":"RNA Biol."},{"key":"2023030719030561500_","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."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddac260\/47267422\/ddac260.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/32\/6\/971\/49433942\/ddac260.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/32\/6\/971\/49433942\/ddac260.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,8]],"date-time":"2023-03-08T21:01:23Z","timestamp":1678309283000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/32\/6\/971\/6762997"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,18]]},"references-count":61,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,10,18]]},"published-print":{"date-parts":[[2023,3,6]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddac260","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,3,15]]},"published":{"date-parts":[[2022,10,18]]}}}