{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T21:13:50Z","timestamp":1787865230102,"version":"build-2784847793"},"reference-count":41,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,8,14]],"date-time":"2018-08-14T00:00:00Z","timestamp":1534204800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R21NS093175"],"award-info":[{"award-number":["R21NS093175"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Therapy - Methods &amp; Clinical Development"],"published-print":{"date-parts":[[2018,9]]},"DOI":"10.1016\/j.omtm.2018.08.005","type":"journal-article","created":{"date-parts":[[2018,8,17]],"date-time":"2018-08-17T10:03:00Z","timestamp":1534500180000},"page":"348-360","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"special_numbering":"C","title":["A Direct Comparison of IV and ICV Delivery Methods for Gene Replacement Therapy in a Mouse Model of SMARD1"],"prefix":"10.1016","volume":"10","author":[{"given":"Monir","family":"Shababi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Villal\u00f3n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin A.","family":"Kaifer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vince","family":"DeMarco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian L.","family":"Lorson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.omtm.2018.08.005_bib1","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1002\/ana.10755","article-title":"Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)","volume":"54","author":"Grohmann","year":"2003","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.omtm.2018.08.005_bib2","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1055\/s-2004-820994","article-title":"Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)","volume":"35","author":"Rudnik-Sch\u00f6neborn","year":"2004","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.omtm.2018.08.005_bib3","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1086\/302636","article-title":"Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21","volume":"65","author":"Grohmann","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.omtm.2018.08.005_bib4","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/ng703","article-title":"Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1","volume":"29","author":"Grohmann","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.omtm.2018.08.005_bib5","doi-asserted-by":"crossref","first-page":"11009","DOI":"10.1093\/nar\/gks792","article-title":"The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1","volume":"40","author":"Lim","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.omtm.2018.08.005_bib6","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1002\/ana.10182","article-title":"Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13","volume":"51","author":"Viollet","year":"2002","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.omtm.2018.08.005_bib7","doi-asserted-by":"crossref","first-page":"17463","DOI":"10.1016\/S0021-9258(19)85357-7","article-title":"The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region","volume":"268","author":"Fukita","year":"1993","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.omtm.2018.08.005_bib8","doi-asserted-by":"crossref","first-page":"2115","DOI":"10.1093\/hmg\/ddp134","article-title":"Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery","volume":"18","author":"de Planell-Saguer","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2018.08.005_bib9","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1093\/hmg\/ddp028","article-title":"IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)","volume":"18","author":"Guenther","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2018.08.005_bib10","doi-asserted-by":"crossref","first-page":"7831","DOI":"10.1073\/pnas.94.15.7831","article-title":"Association of the mammalian helicase MAH with the pre-mRNA splicing complex","volume":"94","author":"Molnar","year":"1997","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.omtm.2018.08.005_bib11","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/S0378-1119(96)00630-0","article-title":"Evidence for regulation of transcription and replication of the human neurotropic virus JCV genome by the human S(mu)bp-2 protein in glial cells","volume":"185","author":"Chen","year":"1997","journal-title":"Gene"},{"key":"10.1016\/j.omtm.2018.08.005_bib12","doi-asserted-by":"crossref","first-page":"7237","DOI":"10.1046\/j.1432-1327.2000.01836.x","article-title":"The rat ortholog of the presumptive flounder antifreeze enhancer-binding protein is a helicase domain-containing protein","volume":"267","author":"Miao","year":"2000","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.omtm.2018.08.005_bib13","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1006\/viro.1998.9588","article-title":"Smubp-2 represses the Epstein-Barr virus lytic switch promoter","volume":"255","author":"Zhang","year":"1999","journal-title":"Virology"},{"key":"10.1016\/j.omtm.2018.08.005_bib14","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1016\/S0896-6273(00)80652-2","article-title":"Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele","volume":"21","author":"Cox","year":"1998","journal-title":"Neuron"},{"key":"10.1016\/j.omtm.2018.08.005_bib15","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/BF00293010","article-title":"Neuromuscular degeneration (nmd): a mutation on mouse chromosome 19 that causes motor neuron degeneration","volume":"6","author":"Cook","year":"1995","journal-title":"Mamm. Genome"},{"key":"10.1016\/j.omtm.2018.08.005_bib16","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1093\/hmg\/ddh222","article-title":"Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)","volume":"13","author":"Grohmann","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2018.08.005_bib17","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1093\/brain\/awu059","article-title":"Polyethylene glycol-coupled IGF1 delays motor function defects in a mouse model of spinal muscular atrophy with respiratory distress type 1","volume":"137","author":"Krieger","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.omtm.2018.08.005_bib18","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1038\/mt.2016.33","article-title":"Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent","volume":"24","author":"Shababi","year":"2016","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtm.2018.08.005_bib19","doi-asserted-by":"crossref","first-page":"3179","DOI":"10.1093\/hmg\/ddi349","article-title":"Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival","volume":"14","author":"Maddatu","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2018.08.005_bib20","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1093\/hmg\/ddh129","article-title":"Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy","volume":"13","author":"Maddatu","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2018.08.005_bib21","doi-asserted-by":"crossref","first-page":"e1500078","DOI":"10.1126\/sciadv.1500078","article-title":"Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model","volume":"1","author":"Nizzardo","year":"2015","journal-title":"Sci. Adv."},{"key":"10.1016\/j.omtm.2018.08.005_bib22","series-title":"Splicing of precursors to mRNAs by the splicesomes. The RNA world","first-page":"525","author":"Burge","year":"1999"},{"key":"10.1016\/j.omtm.2018.08.005_bib23","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/1755-1536-5-15","article-title":"Cardiac fibroblasts, fibrosis and extracellular matrix remodeling in heart disease","volume":"5","author":"Fan","year":"2012","journal-title":"Fibrogenesis Tissue Repair"},{"key":"10.1016\/j.omtm.2018.08.005_bib24","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1161\/HYPERTENSIONAHA.114.03279","article-title":"Connective tissue growth factor inhibition attenuates left ventricular remodeling and dysfunction in pressure overload-induced heart failure","volume":"63","author":"Szab\u00f3","year":"2014","journal-title":"Hypertension"},{"key":"10.1016\/j.omtm.2018.08.005_bib25","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1016\/j.bbadis.2012.09.014","article-title":"Cytokine mediated tissue fibrosis","volume":"1832","author":"Borthwick","year":"2013","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.omtm.2018.08.005_bib26","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1006\/jmcc.1997.0435","article-title":"Angiotensin II stimulated expression of transforming growth factor-beta1 in cardiac fibroblasts and myofibroblasts","volume":"29","author":"Campbell","year":"1997","journal-title":"J.\u00a0Mol. Cell. Cardiol."},{"key":"10.1016\/j.omtm.2018.08.005_bib27","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/j.biocel.2008.07.025","article-title":"Functions and mechanisms of action of CCN matricellular proteins","volume":"41","author":"Chen","year":"2009","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.omtm.2018.08.005_bib28","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1152\/physrev.00008.2011","article-title":"Matricellular proteins in cardiac adaptation and disease","volume":"92","author":"Frangogiannis","year":"2012","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.omtm.2018.08.005_bib29","doi-asserted-by":"crossref","first-page":"2709","DOI":"10.2337\/diabetes.51.9.2709","article-title":"Expression of connective tissue growth factor is increased in injured myocardium associated with protein kinase C beta2 activation and diabetes","volume":"51","author":"Way","year":"2002","journal-title":"Diabetes"},{"key":"10.1016\/j.omtm.2018.08.005_bib30","doi-asserted-by":"crossref","first-page":"4059","DOI":"10.1093\/hmg\/ddq329","article-title":"Cardiac defects contribute to the pathology of spinal muscular atrophy models","volume":"19","author":"Shababi","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2018.08.005_bib31","doi-asserted-by":"crossref","first-page":"3906","DOI":"10.1093\/hmg\/ddq330","article-title":"Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice","volume":"19","author":"Heier","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2018.08.005_bib32","doi-asserted-by":"crossref","first-page":"3895","DOI":"10.1093\/hmg\/ddq300","article-title":"Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery","volume":"19","author":"Bevan","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2018.08.005_bib33","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000007039","article-title":"Cardiac involvement in primary myopathies","volume":"94","author":"Finsterer","year":"2000","journal-title":"Cardiology"},{"key":"10.1016\/j.omtm.2018.08.005_bib34","first-page":"15","article-title":"Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?","volume":"224","author":"Shababi","year":"2014","journal-title":"J.\u00a0Anat."},{"key":"10.1016\/j.omtm.2018.08.005_bib35","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.molmed.2012.11.002","article-title":"Spinal muscular atrophy: going beyond the motor neuron","volume":"19","author":"Hamilton","year":"2013","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.omtm.2018.08.005_bib36","doi-asserted-by":"crossref","DOI":"10.3791\/2968","article-title":"Delivery of therapeutic agents through intracerebroventricular (ICV) and intravenous (IV) injection in mice","author":"Glascock","year":"2011","journal-title":"J.\u00a0Vis. Exp."},{"key":"10.1016\/j.omtm.2018.08.005_bib37","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1016\/j.yjmcc.2012.01.005","article-title":"Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy","volume":"52","author":"Shababi","year":"2012","journal-title":"J.\u00a0Mol. Cell. Cardiol."},{"key":"10.1016\/j.omtm.2018.08.005_bib38","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1093\/hmg\/ddx434","article-title":"Selective vulnerability in neuronal populations in nmd\/SMARD1 mice","volume":"27","author":"Villal\u00f3n","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2018.08.005_bib39","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/s12933-016-0489-z","article-title":"Sodium glucose transporter 2 (SGLT2) inhibition with empagliflozin improves cardiac diastolic function in a female rodent model of diabetes","volume":"16","author":"Habibi","year":"2017","journal-title":"Cardiovasc. Diabetol."},{"key":"10.1016\/j.omtm.2018.08.005_bib40","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1089\/hum.2010.114","article-title":"Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy","volume":"22","author":"Shababi","year":"2011","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.omtm.2018.08.005_bib41","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1007\/s12031-011-9614-3","article-title":"Optimization of SMN trans-splicing through the analysis of SMN introns","volume":"46","author":"Shababi","year":"2012","journal-title":"J.\u00a0Mol. Neurosci."}],"container-title":["Molecular Therapy - Methods &amp; Clinical Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2329050118300822?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2329050118300822?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T09:23:56Z","timestamp":1762421036000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2329050118300822"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9]]},"references-count":41,"alternative-id":["S2329050118300822"],"URL":"https:\/\/doi.org\/10.1016\/j.omtm.2018.08.005","relation":{},"ISSN":["2329-0501"],"issn-type":[{"value":"2329-0501","type":"print"}],"subject":[],"published":{"date-parts":[[2018,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A Direct Comparison of IV and ICV Delivery Methods for Gene Replacement Therapy in a Mouse Model of SMARD1","name":"articletitle","label":"Article Title"},{"value":"Molecular Therapy - Methods & Clinical Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.omtm.2018.08.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 The Authors.","name":"copyright","label":"Copyright"}]}}