{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T19:59:23Z","timestamp":1762459163748,"version":"build-2065373602"},"reference-count":50,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2014,5,1]],"date-time":"2014-05-01T00:00:00Z","timestamp":1398902400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,5,1]],"date-time":"2014-05-01T00:00:00Z","timestamp":1398902400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2014,5]]},"DOI":"10.1016\/j.nmd.2014.02.007","type":"journal-article","created":{"date-parts":[[2014,2,24]],"date-time":"2014-02-24T20:46:08Z","timestamp":1393274768000},"page":"436-444","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Deletion of atrophy enhancing genes fails to ameliorate the phenotype in a mouse model of spinal muscular atrophy"],"prefix":"10.1016","volume":"24","author":[{"given":"Chitra C.","family":"Iyer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vicki L.","family":"McGovern","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dawnne O.","family":"Wise","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Glass","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arthur H.M.","family":"Burghes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.nmd.2014.02.007_b0005","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/nrn2670","article-title":"Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?","volume":"2009","author":"Burghes","year":"2009","journal-title":"Nat Rev Neurosci"},{"key":"10.1016\/j.nmd.2014.02.007_b0010","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1002\/ajmg.a.33474","article-title":"Newborn and carrier screening for spinal muscular atrophy","volume":"152A","author":"Prior","year":"2010","journal-title":"Am J Med Genet Part A"},{"key":"10.1016\/j.nmd.2014.02.007_b0015","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ejhg.2011.134","article-title":"Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens","volume":"20","author":"Sugarman","year":"2012","journal-title":"Eur J Hum Genet EJHG"},{"key":"10.1016\/j.nmd.2014.02.007_b0020","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.nmd.2014.02.007_b0025","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.nmd.2014.02.007_b0030","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 USA"},{"key":"10.1016\/j.nmd.2014.02.007_b0035","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.nmd.2014.02.007_b0040","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1006\/bbrc.1995.2135","article-title":"Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients","volume":"213","author":"Gennarelli","year":"1995","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.nmd.2014.02.007_b0045","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1038\/ng0598-63","article-title":"SMN oligomerization defect correlates with spinal muscular atrophy severity","volume":"19","author":"Lorson","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2014.02.007_b0050","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.nmd.2014.02.007_b0055","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1128\/MCB.01262-08","article-title":"Regulation of SMN protein stability","volume":"29","author":"Burnett","year":"2009","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.nmd.2014.02.007_b0060","doi-asserted-by":"crossref","first-page":"2900","DOI":"10.1093\/hmg\/ddn189","article-title":"Embryonic motor axon development in the severe SMA mouse","volume":"17","author":"McGovern","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2014.02.007_b0065","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1086\/513913","article-title":"When is a deletion not a deletion? When it is converted","volume":"61","author":"Burghes","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2014.02.007_b0070","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1086\/515465","article-title":"Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number","volume":"60","author":"McAndrew","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2014.02.007_b0075","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 USA"},{"key":"10.1016\/j.nmd.2014.02.007_b0080","doi-asserted-by":"crossref","first-page":"1205","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.nmd.2014.02.007_b0085","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.nmd.2014.02.007_b0090","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.nmd.2014.02.007_b0095","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.nmd.2014.02.007_b0100","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1093\/hmg\/ddi078","article-title":"SMNDelta7, 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.nmd.2014.02.007_b0105","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1096\/fj.02-1215rev","article-title":"The new frontier in muscular dystrophy research: booster genes","volume":"17","author":"Engvall","year":"2003","journal-title":"FASEB J"},{"key":"10.1016\/j.nmd.2014.02.007_b0110","doi-asserted-by":"crossref","unstructured":"Bosboom W, Vrancken AF, van den Berg LH, Wokke JH, Iannaccone ST. Drug treatment for spinal muscular atrophy types II and III. The Cochrane database of systematic reviews 2009:CD006282.","DOI":"10.1002\/14651858.CD006282.pub2"},{"key":"10.1016\/j.nmd.2014.02.007_b0115","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1093\/hmg\/ddn426","article-title":"Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy","volume":"18","author":"Rose","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2014.02.007_b0120","doi-asserted-by":"crossref","first-page":"3145","DOI":"10.1093\/hmg\/ddp253","article-title":"Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice","volume":"18","author":"Sumner","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2014.02.007_b0125","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1093\/hmg\/ddr600","article-title":"A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse","volume":"21","author":"Porensky","year":"2012","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2014.02.007_b0130","doi-asserted-by":"crossref","first-page":"72ra18","DOI":"10.1126\/scitranslmed.3001777","article-title":"Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy","volume":"3","author":"Passini","year":"2011","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.nmd.2014.02.007_b0135","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/nbt.1610","article-title":"Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN","volume":"28","author":"Foust","year":"2010","journal-title":"Nat Biotechnol"},{"key":"10.1016\/j.nmd.2014.02.007_b0140","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1093\/hmg\/ddq514","article-title":"Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice","volume":"20","author":"Dominguez","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2014.02.007_b0145","doi-asserted-by":"crossref","first-page":"3578","DOI":"10.1093\/hmg\/ddr275","article-title":"Temporal requirement for high SMN expression in SMA mice","volume":"20","author":"Le","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2014.02.007_b0150","doi-asserted-by":"crossref","first-page":"3029","DOI":"10.1172\/JCI57291","article-title":"Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy","volume":"121","author":"Lutz","year":"2011","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nmd.2014.02.007_b0155","doi-asserted-by":"crossref","first-page":"1704","DOI":"10.1126\/science.1065874","article-title":"Identification of ubiquitin ligases required for skeletal muscle atrophy","volume":"294","author":"Bodine","year":"2001","journal-title":"Science"},{"key":"10.1016\/j.nmd.2014.02.007_b0160","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.ydbio.2010.12.024","article-title":"Developmental regulation of MURF ubiquitin ligases and autophagy proteins nbr1, p62\/SQSTM1 and LC3 during cardiac myofibril assembly and turnover","volume":"351","author":"Perera","year":"2011","journal-title":"Develop Biol"},{"key":"10.1016\/j.nmd.2014.02.007_b0165","doi-asserted-by":"crossref","first-page":"227S","DOI":"10.1093\/jn\/129.1.227S","article-title":"Muscle protein breakdown and the critical role of the ubiquitin-proteasome pathway in normal and disease states","volume":"129","author":"Lecker","year":"1999","journal-title":"J Nutr"},{"key":"10.1016\/j.nmd.2014.02.007_b0170","doi-asserted-by":"crossref","first-page":"1974","DOI":"10.1016\/j.biocel.2005.04.018","article-title":"Skeletal muscle hypertrophy and atrophy signaling pathways","volume":"37","author":"Glass","year":"2005","journal-title":"Int J Biochem Cell Biol"},{"key":"10.1016\/j.nmd.2014.02.007_b0175","first-page":"225","article-title":"Signaling pathways perturbing muscle mass","volume":"13","author":"Glass","year":"2010","journal-title":"Curr Opin Clin Nutr Metab Care"},{"key":"10.1016\/j.nmd.2014.02.007_b0180","doi-asserted-by":"crossref","first-page":"2847","DOI":"10.1074\/jbc.M411346200","article-title":"Degradation of MyoD mediated by the SCF (MAFbx) ubiquitin ligase","volume":"280","author":"Tintignac","year":"2005","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2014.02.007_b0185","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1172\/JCI200422220","article-title":"Atrogin-1\/muscle atrophy F-box inhibits calcineurin-dependent cardiac hypertrophy by participating in an SCF ubiquitin ligase complex","volume":"114","author":"Li","year":"2004","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nmd.2014.02.007_b0190","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1083\/jcb.200901052","article-title":"During muscle atrophy, thick, but not thin, filament components are degraded by MuRF1-dependent ubiquitylation","volume":"185","author":"Cohen","year":"2009","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2014.02.007_b0195","doi-asserted-by":"crossref","first-page":"18135","DOI":"10.1073\/pnas.0404341102","article-title":"Muscle-specific RING finger 1 is a bona fide ubiquitin ligase that degrades cardiac troponin I","volume":"101","author":"Kedar","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.nmd.2014.02.007_b0200","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1083\/jcb.200108089","article-title":"Muscle-specific RING finger-1 interacts with titin to regulate sarcomeric M-line and thick filament structure and may have nuclear functions via its interaction with glucocorticoid modulatory element binding protein-1","volume":"157","author":"McElhinny","year":"2002","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2014.02.007_b0205","doi-asserted-by":"crossref","first-page":"4448","DOI":"10.1093\/hmg\/dds286","article-title":"Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice","volume":"21","author":"Bricceno","year":"2012","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2014.02.007_b0210","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1093\/hmg\/ddm379","article-title":"Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect","volume":"17","author":"Gavrilina","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2014.02.007_b0215","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s10974-012-9288-7","article-title":"Developmental regulation of MURF E3 ubiquitin ligases in skeletal muscle","volume":"33","author":"Perera","year":"2012","journal-title":"J Muscle Res Cell Motility"},{"key":"10.1016\/j.nmd.2014.02.007_b0220","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.nmd.2014.02.007_b0225","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.nmd.2014.02.007_b0230","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"},{"year":"1985","series-title":"Muscle biopsy: a practical approach","author":"Dubowitz","key":"10.1016\/j.nmd.2014.02.007_b0235"},{"key":"10.1016\/j.nmd.2014.02.007_b0240","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1002\/mus.880090106","article-title":"Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy","volume":"9","author":"Hausmanowa-Petrusewicz","year":"1986","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2014.02.007_b0245","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1002\/mus.21838","article-title":"Compound muscle action potential and motor function in children with spinal muscular atrophy","volume":"42","author":"Lewelt","year":"2010","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2014.02.007_b0250","doi-asserted-by":"crossref","first-page":"659","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"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896614000583?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896614000583?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:02:12Z","timestamp":1760774532000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896614000583"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5]]},"references-count":50,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["S0960896614000583"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2014.02.007","relation":{},"ISSN":["0960-8966"],"issn-type":[{"type":"print","value":"0960-8966"}],"subject":[],"published":{"date-parts":[[2014,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Deletion of atrophy enhancing genes fails to ameliorate the phenotype in a mouse model of spinal muscular atrophy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2014.02.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}