{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:55:16Z","timestamp":1791276916480,"version":"4.1.0"},"reference-count":82,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular and Cellular Neuroscience"],"published-print":{"date-parts":[[2015,1]]},"DOI":"10.1016\/j.mcn.2014.12.005","type":"journal-article","created":{"date-parts":[[2014,12,12]],"date-time":"2014-12-12T04:19:46Z","timestamp":1418357986000},"page":"44-50","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":31,"special_numbering":"C","title":["Pluripotent stem cell-based models of spinal muscular atrophy"],"prefix":"10.1016","volume":"64","author":[{"given":"Emanuele","family":"Frattini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Ruggieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Salani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Faravelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Zanetta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Nizzardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Simone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Magri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Corti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mcn.2014.12.005_bb0005","doi-asserted-by":"crossref","first-page":"2748","DOI":"10.1002\/jnr.22106","article-title":"Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy","volume":"87","author":"Acsadi","year":"2009","journal-title":"J. Neurosci. Res."},{"key":"10.1016\/j.mcn.2014.12.005_bb0010","doi-asserted-by":"crossref","first-page":"10337","DOI":"10.1073\/pnas.1104928108","article-title":"Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits","volume":"108","author":"Akten","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.mcn.2014.12.005_bb0015","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.stem.2012.04.026","article-title":"Genetic correction of Huntington's disease phenotypes in induced pluripotent stem cells","volume":"11","author":"An","year":"2012","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.mcn.2014.12.005_bb0020","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.2741\/3670","article-title":"Splicing regulation of the survival motor neuron genes and implications for treatment of spinal muscular atrophy","volume":"15","author":"Bebee","year":"2010","journal-title":"Front. Biosci. (Landmark Ed.)"},{"key":"10.1016\/j.mcn.2014.12.005_bb0025","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1002\/glia.22428","article-title":"Altered astrocytic response to activation in SOD1 (G93A) mice and its implications on amyotrophic lateral sclerosis pathogenesis","volume":"61","author":"Benkler","year":"2013","journal-title":"Glia"},{"key":"10.1016\/j.mcn.2014.12.005_bb0030","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/nature09915","article-title":"Modelling schizophrenia using human induced pluripotent stem cells","volume":"473","author":"Brennand","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.mcn.2014.12.005_bb0035","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1016\/j.biopsych.2013.10.025","article-title":"Modeling heterogeneous patients with a clinical diagnosis of schizophrenia with induced pluripotent stem cells","volume":"75","author":"Brennand","year":"2014","journal-title":"Biol. Psychiatry"},{"key":"10.1016\/j.mcn.2014.12.005_bb0040","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/BF00212028","article-title":"Linkage mapping of the spinal muscular atrophy gene","volume":"93","author":"Burghes","year":"1994","journal-title":"Hum. Genet."},{"key":"10.1016\/j.mcn.2014.12.005_bb0045","doi-asserted-by":"crossref","first-page":"11014","DOI":"10.1523\/JNEUROSCI.1637-06.2006","article-title":"Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis","volume":"26","author":"Carrel","year":"2006","journal-title":"J. Neurosci."},{"key":"10.1016\/j.mcn.2014.12.005_bb0050","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/j.cell.2008.09.020","article-title":"An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs","volume":"135","author":"Chari","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.mcn.2014.12.005_bb0055","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1126\/science.1086071","article-title":"Wild-type nonneuronal cells extend survival of SOD1 mutant motor neurons in ALS mice","volume":"302","author":"Clement","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.mcn.2014.12.005_bb0060","doi-asserted-by":"crossref","first-page":"165ra162","DOI":"10.1126\/scitranslmed.3004108","article-title":"Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy","volume":"4","author":"Corti","year":"2012","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.mcn.2014.12.005_bb0065","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1006\/nbdi.1996.0010","article-title":"The neurobiology of childhood spinal muscular atrophy","volume":"3","author":"Crawford","year":"1996","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.mcn.2014.12.005_bb0070","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/1471-2377-11-36","article-title":"Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid","volume":"11","author":"Darbar","year":"2011","journal-title":"BMC Neurol."},{"key":"10.1016\/j.mcn.2014.12.005_bb0075","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1002\/ana.20901","article-title":"Recovery from paralysis in adult rats using embryonic stem cells","volume":"6","author":"Deshpande","year":"2006","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mcn.2014.12.005_bb0080","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1038\/nn1885","article-title":"Non-cell autonomous effect of glia on motor neurons in an embryonic stem cell-based ALS model","volume":"10","author":"Di Giorgio","year":"2007","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.mcn.2014.12.005_bb0085","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1126\/science.1158799","article-title":"Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons","volume":"321","author":"Dimos","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.mcn.2014.12.005_bb0090","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.mcn.2014.12.005_bb0095","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/nature07677","article-title":"Induced pluripotent stem cells from a spinal muscular atrophy patient","volume":"457","author":"Ebert","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.mcn.2014.12.005_bb0100","doi-asserted-by":"crossref","first-page":"3914","DOI":"10.1523\/JNEUROSCI.3631-10.2011","article-title":"The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons","volume":"31","author":"Fallini","year":"2011","journal-title":"J. Neurosci."},{"key":"10.1016\/j.mcn.2014.12.005_bb0105","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1093\/hmg\/11.14.1605","article-title":"Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development","volume":"11","author":"Fan","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mcn.2014.12.005_bb0110","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1016\/S0092-8674(00)80368-2","article-title":"The SMN\u2013SIP1 complex has an essential role in spliceosomal snRNP biogenesis","volume":"90","author":"Fischer","year":"1997","journal-title":"Cell"},{"key":"10.1016\/j.mcn.2014.12.005_bb0115","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.mcn.2014.12.005_bb0120","doi-asserted-by":"crossref","first-page":"e921","DOI":"10.1371\/journal.pone.0000921","article-title":"Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs","volume":"2","author":"Gabanella","year":"2007","journal-title":"PLoS One"},{"key":"10.1016\/j.mcn.2014.12.005_bb0125","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1093\/hmg\/dds437","article-title":"VPA response in SMA is suppressed by the fatty acid translocase CD36","volume":"22","author":"Garbes","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mcn.2014.12.005_bb0130","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.mcn.2014.12.005_bb0135","doi-asserted-by":"crossref","first-page":"1951","DOI":"10.1093\/hmg\/ddq073","article-title":"The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal beta-actin mRNA translocation in spinal motor neurons","volume":"19","author":"Glinka","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mcn.2014.12.005_bb0140","doi-asserted-by":"crossref","first-page":"3818","DOI":"10.1523\/JNEUROSCI.5775-11.2012","article-title":"Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction","volume":"32","author":"Gogliotti","year":"2012","journal-title":"J. Neurosci."},{"key":"10.1016\/j.mcn.2014.12.005_bb0145","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1038\/nbt.1957","article-title":"Astrocytes from familial and sporadic ALS patients are toxic to motor neurons","volume":"29","author":"Haidet-Phillips","year":"2011","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.mcn.2014.12.005_bb0150","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1242\/dev.020867","article-title":"Epigenetic reprogramming and induced pluripotency","volume":"136","author":"Hochedlinger","year":"2009","journal-title":"Development"},{"key":"10.1016\/j.mcn.2014.12.005_bb0155","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.mcn.2014.12.005_bb0160","doi-asserted-by":"crossref","first-page":"1295","DOI":"10.1038\/nprot.2009.127","article-title":"Differentiation of spinal motor neurons from pluripotent human stem cells","volume":"4","author":"Hu","year":"2009","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.mcn.2014.12.005_bb0165","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1093\/hmg\/ddq500","article-title":"HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects","volume":"20","author":"Hubers","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mcn.2014.12.005_bb0170","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/nature10821","article-title":"Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells","volume":"482","author":"Israel","year":"2012","journal-title":"Nature"},{"issue":"Suppl. 1","key":"10.1016\/j.mcn.2014.12.005_bb0175","doi-asserted-by":"crossref","first-page":"I37","DOI":"10.1007\/s004150050555","article-title":"The role of SMN in spinal muscular atrophy","volume":"247","author":"Jablonka","year":"2000","journal-title":"J. Neurol."},{"key":"10.1016\/j.mcn.2014.12.005_bb0180","doi-asserted-by":"crossref","first-page":"e21296","DOI":"10.1371\/journal.pone.0021296","article-title":"SMA CARNIVAL trial part II: a prospective, single-armed trial of l-carnitine and valproic acid in ambulatory children with spinal muscular atrophy","volume":"6","author":"Kissel","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.mcn.2014.12.005_bb0185","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1177\/0883073807305666","article-title":"Molecular functions of the SMN complex","volume":"22","author":"Kolb","year":"2007","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.mcn.2014.12.005_bb0190","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1038\/cdd.2009.130","article-title":"Caspase-mediated inhibition of sphingomyelin synthesis is involved in FasL-triggered cell death","volume":"17","author":"Lafont","year":"2010","journal-title":"Cell Death Differ."},{"key":"10.1016\/j.mcn.2014.12.005_bb0200","doi-asserted-by":"crossref","first-page":"e46353","DOI":"10.1371\/journal.pone.0046353","article-title":"Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy","volume":"7","author":"Lee","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.mcn.2014.12.005_bb0205","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.mcn.2014.12.005_bb0210","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.mcn.2014.12.005_bb0215","doi-asserted-by":"crossref","first-page":"3555","DOI":"10.1002\/j.1460-2075.1996.tb00725.x","article-title":"A novel nuclear structure containing the survival of motor neurons protein","volume":"15","author":"Liu","year":"1996","journal-title":"EMBO J."},{"key":"10.1016\/j.mcn.2014.12.005_bb0220","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":"10.1016\/j.mcn.2014.12.005_bb0225","doi-asserted-by":"crossref","first-page":"R111","DOI":"10.1093\/hmg\/ddq147","article-title":"Spinal muscular atrophy: mechanisms and therapeutic strategies","volume":"19","author":"Lorson","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mcn.2014.12.005_bb0230","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.cell.2012.09.012","article-title":"An SMN-dependent U12 splicing event essential for motor circuit function","volume":"151","author":"Lotti","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.mcn.2014.12.005_bb0235","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.1016\/S0140-6736(08)60921-6","article-title":"Spinal muscular atrophy","volume":"371","author":"Lunn","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.mcn.2014.12.005_bb0240","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1038\/nchembio.595","article-title":"A screen for regulators of survival of motor neuron protein levels","volume":"7","author":"Makhortova","year":"2011","journal-title":"Nat. Chem. Biol."},{"key":"10.1016\/j.mcn.2014.12.005_bb0245","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1016\/j.stem.2008.10.001","article-title":"Non-cell-autonomous effect of human SOD1 G37R astrocytes on motor neurons derived from human embryonic stem cells","volume":"3","author":"Marchetto","year":"2008","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.mcn.2014.12.005_bb0250","doi-asserted-by":"crossref","first-page":"8703","DOI":"10.1523\/JNEUROSCI.0204-12.2012","article-title":"Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy","volume":"32","author":"Martinez","year":"2012","journal-title":"J. Neurosci."},{"key":"10.1016\/j.mcn.2014.12.005_bb0255","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/S1474-4422(11)70022-9","article-title":"Induced pluripotent stem cells: a new revolution for clinical neurology?","volume":"10","author":"Mattis","year":"2011","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.mcn.2014.12.005_bb0260","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.1002\/glia.22522","article-title":"Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production","volume":"61","author":"McGivern","year":"2013","journal-title":"Glia"},{"key":"10.1016\/j.mcn.2014.12.005_bb0265","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.nbd.2010.01.006","article-title":"Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy","volume":"38","author":"Michaud","year":"2010","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.mcn.2014.12.005_bb0270","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.mcn.2014.12.005_bb0275","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.mcn.2014.12.005_bb0280","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1083\/jcb.200208079","article-title":"A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy","volume":"160","author":"Monani","year":"2003","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.mcn.2014.12.005_bb0285","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.cell.2008.07.041","article-title":"Disease-specific induced pluripotent stem cells","volume":"134","author":"Park","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.mcn.2014.12.005_bb0290","doi-asserted-by":"crossref","first-page":"12005","DOI":"10.1523\/JNEUROSCI.2208-10.2010","article-title":"Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene","volume":"30","author":"Park","year":"2010","journal-title":"J. Neurosci."},{"key":"10.1016\/j.mcn.2014.12.005_bb0295","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1172\/JCI41615","article-title":"CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy","volume":"120","author":"Passini","year":"2010","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.mcn.2014.12.005_bb0300","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1038\/sj.embor.7400941","article-title":"Chaperoning ribonucleoprotein biogenesis in health and disease","volume":"8","author":"Pellizzoni","year":"2007","journal-title":"EMBO Rep."},{"key":"10.1016\/j.mcn.2014.12.005_bb0305","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/S0092-8674(00)81632-3","article-title":"A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing","volume":"95","author":"Pellizzoni","year":"1998","journal-title":"Cell"},{"key":"10.1016\/j.mcn.2014.12.005_bb0310","doi-asserted-by":"crossref","first-page":"1775","DOI":"10.1126\/science.1074962","article-title":"Essential role for the SMN complex in the specificity of snRNP assembly","volume":"298","author":"Pellizzoni","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.mcn.2014.12.005_bb0315","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. A"},{"key":"10.1016\/j.mcn.2014.12.005_bb0320","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/j.neuron.2014.01.011","article-title":"Necroptosis drives motor neuron death in models of both sporadic and familial ALS","volume":"81","author":"Re","year":"2014","journal-title":"Neuron"},{"key":"10.1016\/j.mcn.2014.12.005_bb0325","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1083\/jcb.200304128","article-title":"Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons","volume":"163","author":"Rossoll","year":"2003","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.mcn.2014.12.005_bb0330","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/1741-7007-9-42","article-title":"Stem cell biology and drug discovery","volume":"9","author":"Rubin","year":"2011","journal-title":"BMC Biol."},{"key":"10.1016\/j.mcn.2014.12.005_bb0335","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1002\/emmm.201200215","article-title":"Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease","volume":"4","author":"Sanchez-Danes","year":"2012","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.mcn.2014.12.005_bb0340","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/scrt78","article-title":"Induced pluripotent stem cells in the study of neurological diseases","volume":"2","author":"Saporta","year":"2011","journal-title":"Stem Cell Res. Ther."},{"key":"10.1016\/j.mcn.2014.12.005_bb0345","doi-asserted-by":"crossref","first-page":"e39113","DOI":"10.1371\/journal.pone.0039113","article-title":"Inhibition of apoptosis blocks human motor neuron cell death in a stem cell model of spinal muscular atrophy","volume":"7","author":"Sareen","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.mcn.2014.12.005_bb0355","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1016\/j.cell.2011.06.019","article-title":"Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations","volume":"146","author":"Soldner","year":"2011","journal-title":"Cell"},{"key":"10.1016\/j.mcn.2014.12.005_bb0360","doi-asserted-by":"crossref","first-page":"e5268","DOI":"10.1371\/journal.pone.0005268","article-title":"Phase II open label study of valproic acid in spinal muscular atrophy","volume":"4","author":"Swoboda","year":"2009","journal-title":"PLoS One"},{"key":"10.1016\/j.mcn.2014.12.005_bb0365","doi-asserted-by":"crossref","first-page":"e12140","DOI":"10.1371\/journal.pone.0012140","article-title":"SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of l-carnitine and valproic acid in spinal muscular atrophy","volume":"5","author":"Swoboda","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.mcn.2014.12.005_bb0370","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1093\/hmg\/ddm327","article-title":"KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy","volume":"17","author":"Tadesse","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mcn.2014.12.005_bb0375","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.cell.2006.07.024","article-title":"Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors","volume":"126","author":"Takahashi","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.mcn.2014.12.005_bb0380","doi-asserted-by":"crossref","first-page":"35ra42","DOI":"10.1126\/scitranslmed.3000830","article-title":"Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy","volume":"2","author":"Valori","year":"2010","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.mcn.2014.12.005_bb0385","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1038\/cr.2012.166","article-title":"Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy","volume":"23","author":"Wang","year":"2013","journal-title":"Cell Res."},{"key":"10.1016\/j.mcn.2014.12.005_bb0390","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1212\/01.wnl.0000231139.26253.d0","article-title":"Valproate may improve strength and function in patients with type III\/IV spinal muscle atrophy","volume":"67","author":"Weihl","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.mcn.2014.12.005_bb0395","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","article-title":"An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)","volume":"15","author":"Wirth","year":"2000","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mcn.2014.12.005_bb0400","series-title":"Global Burden of Disease and Risk Factors. 2004 Update","author":"World Health Organization","year":"2008"},{"key":"10.1016\/j.mcn.2014.12.005_bb0405","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/j.stem.2013.04.003","article-title":"A small molecule screen in stem-cell-derived motor neurons identifies a kinase inhibitor as a candidate therapeutic for ALS","volume":"12","author":"Yang","year":"2013","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.mcn.2014.12.005_bb0410","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1006\/excr.2000.4858","article-title":"The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells","volume":"256","author":"Young","year":"2000","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.mcn.2014.12.005_bb0415","doi-asserted-by":"crossref","first-page":"6627","DOI":"10.1523\/JNEUROSCI.23-16-06627.2003","article-title":"Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization","volume":"23","author":"Zhang","year":"2003","journal-title":"J. Neurosci."},{"key":"10.1016\/j.mcn.2014.12.005_bb0420","doi-asserted-by":"crossref","first-page":"8622","DOI":"10.1523\/JNEUROSCI.3967-05.2006","article-title":"Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons","volume":"26","author":"Zhang","year":"2006","journal-title":"J. Neurosci."}],"container-title":["Molecular and Cellular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1044743114001894?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1044743114001894?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,8,18]],"date-time":"2019-08-18T07:21:25Z","timestamp":1566112885000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1044743114001894"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1]]},"references-count":82,"alternative-id":["S1044743114001894"],"URL":"https:\/\/doi.org\/10.1016\/j.mcn.2014.12.005","relation":{},"ISSN":["1044-7431"],"issn-type":[{"value":"1044-7431","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pluripotent stem cell-based models of spinal muscular atrophy","name":"articletitle","label":"Article Title"},{"value":"Molecular and Cellular Neuroscience","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mcn.2014.12.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}