{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T06:28:07Z","timestamp":1790922487496,"version":"4.1.0"},"reference-count":34,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Experimental Cell Research"],"published-print":{"date-parts":[[2008,2]]},"DOI":"10.1016\/j.yexcr.2007.10.012","type":"journal-article","created":{"date-parts":[[2007,10,25]],"date-time":"2007-10-25T06:07:12Z","timestamp":1193292432000},"page":"878-886","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"title":["Genetic conversion of an SMN2 gene to SMN1: A novel approach to the treatment of spinal muscular atrophy"],"prefix":"10.1016","volume":"314","author":[{"given":"Darlise","family":"DiMatteo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Callahan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric B.","family":"Kmiec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.yexcr.2007.10.012_bib1","doi-asserted-by":"crossref","first-page":"155\u2013165","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.yexcr.2007.10.012_bib2","doi-asserted-by":"crossref","first-page":"6307\u20136311","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.yexcr.2007.10.012_bib3","doi-asserted-by":"crossref","first-page":"460\u2013463","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.yexcr.2007.10.012_bib4","doi-asserted-by":"crossref","first-page":"2451\u20132457","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.yexcr.2007.10.012_bib5","doi-asserted-by":"crossref","first-page":"377\u2013384","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.yexcr.2007.10.012_bib6","doi-asserted-by":"crossref","first-page":"259\u2013265","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.yexcr.2007.10.012_bib7","doi-asserted-by":"crossref","first-page":"358\u2013368","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":"10.1016\/j.yexcr.2007.10.012_bib8","doi-asserted-by":"crossref","first-page":"256\u2013259","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.yexcr.2007.10.012_bib9","doi-asserted-by":"crossref","first-page":"970\u2013975","DOI":"10.1002\/ana.20836","article-title":"In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate","volume":"59","author":"Brichta","year":"2006","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.yexcr.2007.10.012_bib10","doi-asserted-by":"crossref","first-page":"179\u2013188","DOI":"10.1089\/104303403321070874","article-title":"Development of a gene therapy strategy for the restoration of survival motor neuron protein expression: implications for spinal muscular atrophy therapy","volume":"14","author":"DiDonato","year":"2003","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.yexcr.2007.10.012_bib11","doi-asserted-by":"crossref","first-page":"1726\u20131731","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.yexcr.2007.10.012_bib12","doi-asserted-by":"crossref","first-page":"639\u2013646","DOI":"10.1038\/sj.gt.3302511","article-title":"Gene therapy progress and prospects: targeted gene repair","volume":"12","author":"Parekh-Olmedo","year":"2005","journal-title":"Gene Ther."},{"key":"10.1016\/j.yexcr.2007.10.012_bib13","doi-asserted-by":"crossref","first-page":"869\u2013880","DOI":"10.1089\/hum.2005.16.869","article-title":"In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement","volume":"16","author":"Sangiuolo","year":"2005","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.yexcr.2007.10.012_bib14","doi-asserted-by":"crossref","first-page":"54\u201362","DOI":"10.1016\/j.ymthe.2006.01.012","article-title":"Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector","volume":"14","author":"Baughan","year":"2006","journal-title":"Mol. Ther."},{"key":"10.1016\/j.yexcr.2007.10.012_bib15","doi-asserted-by":"crossref","first-page":"e73","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.yexcr.2007.10.012_bib16","doi-asserted-by":"crossref","first-page":"74\u201378","DOI":"10.1002\/humu.10221","article-title":"Determination of SMN1 and SMN2 copy number using TaqMan technology","volume":"22","author":"Anhuf","year":"2003","journal-title":"Human Mutat."},{"key":"10.1016\/j.yexcr.2007.10.012_bib17","doi-asserted-by":"crossref","first-page":"194\u2013202","DOI":"10.1002\/ana.20548","article-title":"Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells","volume":"58","author":"Grzeschik","year":"2005","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.yexcr.2007.10.012_bib18","doi-asserted-by":"crossref","first-page":"734\u2013739","DOI":"10.1016\/j.fertnstert.2005.03.054","article-title":"Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy","volume":"84","author":"Burlet","year":"2005","journal-title":"Fertil. Steril."},{"key":"10.1016\/j.yexcr.2007.10.012_bib19","doi-asserted-by":"crossref","first-page":"59\u201365","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.yexcr.2007.10.012_bib20","doi-asserted-by":"crossref","first-page":"4238\u20134250","DOI":"10.1093\/nar\/29.20.4238","article-title":"In vivo gene repair of point and frameshift mutations directed by chimeric RNA\/DNA oligonucleotides and modified single-stranded oligonucleotides","volume":"29","author":"Liu","year":"2001","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.yexcr.2007.10.012_bib21","doi-asserted-by":"crossref","first-page":"3852\u20133863","DOI":"10.1128\/MCB.22.11.3852-3863.2002","article-title":"Strand bias in targeted gene repair is influenced by transcriptional activity","volume":"22","author":"Liu","year":"2002","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.yexcr.2007.10.012_bib22","doi-asserted-by":"crossref","first-page":"3867\u20133874","DOI":"10.1242\/jcs.01250","article-title":"DNA replication and transcription direct a DNA strand bias in the process of targeted gene repair in mammalian cells","volume":"117","author":"Brachman","year":"2004","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.yexcr.2007.10.012_bib23","doi-asserted-by":"crossref","first-page":"1205\u20131214","DOI":"10.1093\/hmg\/6.8.1205","article-title":"The survival motor neuron protein in spinal muscular atrophy","volume":"6","author":"Coovert","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.yexcr.2007.10.012_bib24","doi-asserted-by":"crossref","first-page":"197\u2013210","DOI":"10.1385\/MB:29:3:197","article-title":"Reaction parameters of targeted gene repair in Mammalian cells","volume":"29","author":"Hu","year":"2005","journal-title":"Mol. Biotechnol."},{"key":"10.1016\/j.yexcr.2007.10.012_bib25","doi-asserted-by":"crossref","first-page":"155\u2013171","DOI":"10.1089\/oli.2005.15.155","article-title":"A tolerance of DNA heterology in the mammalian targeted gene repair reaction","volume":"15","author":"Drury","year":"2005","journal-title":"Oligonucleotides"},{"key":"10.1016\/j.yexcr.2007.10.012_bib26","doi-asserted-by":"crossref","first-page":"221\u2013233","DOI":"10.1093\/hmg\/ddi020","article-title":"Strand bias in oligonucleotide-mediated dystrophin gene editing","volume":"14","author":"Bertoni","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.yexcr.2007.10.012_bib27","doi-asserted-by":"crossref","first-page":"2003\u20132018","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.yexcr.2007.10.012_bib28","doi-asserted-by":"crossref","first-page":"647\u2013654","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.yexcr.2007.10.012_bib29","doi-asserted-by":"crossref","first-page":"589\u2013601","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":"10.1016\/j.yexcr.2007.10.012_bib30","doi-asserted-by":"crossref","first-page":"659\u2013671","DOI":"10.1172\/JCI29562","article-title":"Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy","volume":"117","author":"Avila","year":"2007","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.yexcr.2007.10.012_bib31","doi-asserted-by":"crossref","first-page":"9808\u20139813","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.yexcr.2007.10.012_bib32","doi-asserted-by":"crossref","first-page":"286\u2013295","DOI":"10.1016\/j.nbd.2006.07.004","article-title":"Establishing a standardized therapeutic testing protocol for spinal muscular atrophy","volume":"24","author":"Tsai","year":"2006","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.yexcr.2007.10.012_bib33","doi-asserted-by":"crossref","first-page":"615\u2013622","DOI":"10.1038\/76448","article-title":"In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA\/DNA oligonucleotide","volume":"18","author":"Bartlett","year":"2000","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.yexcr.2007.10.012_bib34","doi-asserted-by":"crossref","first-page":"302\u2013323","DOI":"10.1002\/mus.20439","article-title":"Gene-based treatment of motor neuron diseases","volume":"33","author":"Federici","year":"2006","journal-title":"Muscle Nerve"}],"container-title":["Experimental Cell Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014482707004715?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014482707004715?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T05:09:17Z","timestamp":1762146557000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014482707004715"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2]]},"references-count":34,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,2]]}},"alternative-id":["S0014482707004715"],"URL":"https:\/\/doi.org\/10.1016\/j.yexcr.2007.10.012","relation":{},"ISSN":["0014-4827"],"issn-type":[{"value":"0014-4827","type":"print"}],"subject":[],"published":{"date-parts":[[2008,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic conversion of an SMN2 gene to SMN1: A novel approach to the treatment of spinal muscular atrophy","name":"articletitle","label":"Article Title"},{"value":"Experimental Cell Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.yexcr.2007.10.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}