{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:35:10Z","timestamp":1792100110754,"version":"4.4.0"},"reference-count":71,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T00:00:00Z","timestamp":1714694400000},"content-version":"vor","delay-in-days":368,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuron"],"published-print":{"date-parts":[[2023,5]]},"DOI":"10.1016\/j.neuron.2023.02.004","type":"journal-article","created":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T10:29:41Z","timestamp":1677666581000},"page":"1423-1439.e4","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":41,"title":["A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses"],"prefix":"10.1016","volume":"111","author":[{"given":"Jeong-Ki","family":"Kim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narendra N.","family":"Jha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoyuki","family":"Awano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Caine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kishore","family":"Gollapalli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Welby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seung-Soo","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Fuentes-Moliz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueyong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihua","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fusako","family":"Sera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taishi","family":"Takeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunichi","family":"Homma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chien-Ping","family":"Ko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Tabares","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison D.","family":"Ebert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark M.","family":"Rich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umrao R.","family":"Monani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.neuron.2023.02.004_bib1","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.neuron.2023.02.004_bib2","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.neuron.2023.02.004_bib3","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.neuron.2023.02.004_bib4","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.neuron.2023.02.004_bib5","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.neuron.2023.02.004_bib6","doi-asserted-by":"crossref","first-page":"100346","DOI":"10.1016\/j.xcrm.2021.100346","article-title":"Spinal muscular atrophy: from approved therapies to future therapeutic targets for personalized medicine","volume":"2","author":"Chaytow","year":"2021","journal-title":"Cell Rep. Med."},{"key":"10.1016\/j.neuron.2023.02.004_bib7","doi-asserted-by":"crossref","first-page":"3877","DOI":"10.1007\/s00018-018-2849-1","article-title":"The role of survival motor neuron protein (SMN) in protein homeostasis","volume":"75","author":"Chaytow","year":"2018","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.neuron.2023.02.004_bib8","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1126\/science.1086187","article-title":"SCNM1, a putative RNA splicing factor that modifies disease severity in mice","volume":"301","author":"Buchner","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.neuron.2023.02.004_bib9","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/S0959-437X(03)00061-3","article-title":"Modifier genes and protective alleles in humans and mice","volume":"13","author":"Nadeau","year":"2003","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.neuron.2023.02.004_bib10","doi-asserted-by":"crossref","first-page":"e1001172","DOI":"10.1371\/journal.pgen.1001172","article-title":"Conserved genes act as modifiers of invertebrate SMN loss of function defects","volume":"6","author":"Dimitriadi","year":"2010","journal-title":"PLoS Genet."},{"key":"10.1016\/j.neuron.2023.02.004_bib11","doi-asserted-by":"crossref","first-page":"E2371","DOI":"10.1073\/pnas.1301738110","article-title":"Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy","volume":"110","author":"Sen","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.neuron.2023.02.004_bib12","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.ajhg.2016.07.014","article-title":"The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype","volume":"99","author":"Hosseinibarkooie","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neuron.2023.02.004_bib13","doi-asserted-by":"crossref","first-page":"2343","DOI":"10.1093\/brain\/awy167","article-title":"CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis","volume":"141","author":"Janzen","year":"2018","journal-title":"Brain"},{"key":"10.1016\/j.neuron.2023.02.004_bib14","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.ajhg.2017.01.005","article-title":"Neurocalcin Delta suppression protects against spinal muscular atrophy in humans and across species by restoring impaired endocytosis","volume":"100","author":"Riessland","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neuron.2023.02.004_bib15","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1126\/science.1155085","article-title":"Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy","volume":"320","author":"Oprea","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.neuron.2023.02.004_bib16","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.neuron.2023.02.004_bib17","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.neuron.2023.02.004_bib18","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1097\/NEN.0000000000000144","article-title":"Spectrum of neuropathophysiology in spinal muscular atrophy type I","volume":"74","author":"Harding","year":"2015","journal-title":"J.\u00a0Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.neuron.2023.02.004_bib19","doi-asserted-by":"crossref","first-page":"4817","DOI":"10.1172\/JCI124120","article-title":"Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment","volume":"129","author":"Ramos","year":"2019","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.neuron.2023.02.004_bib20","doi-asserted-by":"crossref","first-page":"2552","DOI":"10.1093\/hmg\/ddn156","article-title":"Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy","volume":"17","author":"Kariya","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuron.2023.02.004_bib21","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1523\/JNEUROSCI.4434-08.2009","article-title":"Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice","volume":"29","author":"Kong","year":"2009","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.neuron.2023.02.004_bib22","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1093\/hmg\/ddm367","article-title":"Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy","volume":"17","author":"Murray","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuron.2023.02.004_bib23","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.neuron.2023.02.004_bib24","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1083\/jcb.201209132","article-title":"The adhesion protein IgSF9b is coupled to neuroligin 2 via S-SCAM to promote inhibitory synapse development","volume":"201","author":"Woo","year":"2013","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.neuron.2023.02.004_bib25","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1016\/S0896-6273(01)00427-5","article-title":"A trimeric protein complex functions as a synaptic chaperone machine","volume":"31","author":"Tobaben","year":"2001","journal-title":"Neuron"},{"key":"10.1016\/j.neuron.2023.02.004_bib26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0006-2952(01)00648-7","article-title":"Molecular chaperones and the regulation of neurotransmitter exocytosis","volume":"62","author":"Zinsmaier","year":"2001","journal-title":"Biochem. Pharmacol."},{"key":"10.1016\/j.neuron.2023.02.004_bib27","doi-asserted-by":"crossref","first-page":"4906","DOI":"10.1093\/hmg\/ddq425","article-title":"A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2","volume":"19","author":"Jodelka","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuron.2023.02.004_bib28","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1128\/MCB.06077-11","article-title":"A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy","volume":"32","author":"Ruggiu","year":"2012","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.neuron.2023.02.004_bib29","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(-\/-) 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.neuron.2023.02.004_bib30","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.neuron.2023.02.004_bib31","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1016\/j.celrep.2013.11.012","article-title":"SMN is essential for the biogenesis of U7 small nuclear ribonucleoprotein and 3\u2032-end formation of histone mRNAs","volume":"5","author":"Tisdale","year":"2013","journal-title":"Cell Rep."},{"key":"10.1016\/j.neuron.2023.02.004_bib32","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a005637","article-title":"Synaptic vesicle exocytosis","volume":"3","author":"S\u00fcdhof","year":"2011","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.neuron.2023.02.004_bib33","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1016\/j.neuron.2015.10.012","article-title":"Hsc70-4 deforms membranes to promote synaptic protein turnover by endosomal microautophagy","volume":"88","author":"Uytterhoeven","year":"2015","journal-title":"Neuron"},{"key":"10.1016\/j.neuron.2023.02.004_bib34","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.cell.2005.09.028","article-title":"Alpha-synuclein cooperates with CSPalpha in preventing neurodegeneration","volume":"123","author":"Chandra","year":"2005","journal-title":"Cell"},{"key":"10.1016\/j.neuron.2023.02.004_bib35","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/ncb2131","article-title":"CSPalpha promotes SNARE-complex assembly by chaperoning SNAP-25 during synaptic activity","volume":"13","author":"Sharma","year":"2011","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.neuron.2023.02.004_bib36","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.mcn.2009.05.009","article-title":"SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis","volume":"42","author":"Bowerman","year":"2009","journal-title":"Mol. Cell. Neurosci."},{"key":"10.1016\/j.neuron.2023.02.004_bib37","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1073\/pnas.92.3.689","article-title":"Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis","volume":"92","author":"Ripps","year":"1995","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.neuron.2023.02.004_bib38","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/j.neuron.2018.02.009","article-title":"Augmenting the SMN protein to treat infantile spinal muscular atrophy","volume":"97","author":"Kim","year":"2018","journal-title":"Neuron"},{"key":"10.1016\/j.neuron.2023.02.004_bib39","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1126\/science.1252884","article-title":"Composition of isolated synaptic boutons reveals the amounts of vesicle trafficking proteins","volume":"344","author":"Wilhelm","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.neuron.2023.02.004_bib40","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.pharmthera.2012.08.014","article-title":"Comprehensive review on the HSC70 functions, interactions with related molecules and involvement in clinical diseases and therapeutic potential","volume":"136","author":"Liu","year":"2012","journal-title":"Pharmacol. Ther."},{"key":"10.1016\/j.neuron.2023.02.004_bib41","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1101\/gr.3936206","article-title":"Systematic genome-wide annotation of spliceosomal proteins reveals differential gene family expansion","volume":"16","author":"Barbosa-Morais","year":"2006","journal-title":"Genome Res."},{"key":"10.1016\/j.neuron.2023.02.004_bib42","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1101\/gr.473902","article-title":"Large-scale proteomic analysis of the human spliceosome","volume":"12","author":"Rappsilber","year":"2002","journal-title":"Genome Res."},{"key":"10.1016\/j.neuron.2023.02.004_bib43","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1101\/gr.147546.112","article-title":"A broadly applicable high-throughput screening strategy identifies new regulators of Dlg4 (Psd-95) alternative splicing","volume":"23","author":"Zheng","year":"2013","journal-title":"Genome Res."},{"key":"10.1016\/j.neuron.2023.02.004_bib44","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1126\/science.272.5268.1606","article-title":"Structural analysis of substrate binding by the molecular chaperone DnaK","volume":"272","author":"Zhu","year":"1996","journal-title":"Science"},{"key":"10.1016\/j.neuron.2023.02.004_bib45","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1186\/1472-6807-7-56","article-title":"Spectrum of disease-causing mutations in protein secondary structures","volume":"7","author":"Khan","year":"2007","journal-title":"BMC Struct. Biol."},{"key":"10.1016\/j.neuron.2023.02.004_bib46","doi-asserted-by":"crossref","first-page":"e0151760","DOI":"10.1371\/journal.pone.0151760","article-title":"Characterization of disease-associated mutations in human transmembrane proteins","volume":"11","author":"Moln\u00e1r","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.neuron.2023.02.004_bib47","doi-asserted-by":"crossref","first-page":"24295","DOI":"10.3390\/ijms161024295","article-title":"Mutational spectrum analysis of neurodegenerative diseases and its pathogenic implication","volume":"16","author":"Shen","year":"2015","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.neuron.2023.02.004_bib48","doi-asserted-by":"crossref","first-page":"10796","DOI":"10.1074\/jbc.RA118.002234","article-title":"The disorderly conduct of Hsc70 and its interaction with the Alzheimer's-related Tau protein","volume":"293","author":"Taylor","year":"2018","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.neuron.2023.02.004_bib49","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1038\/ncb1101-945","article-title":"A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs","volume":"3","author":"Meister","year":"2001","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.neuron.2023.02.004_bib50","doi-asserted-by":"crossref","first-page":"e3000606","DOI":"10.1371\/journal.pbio.3000606","article-title":"Proteome-wide identification of HSP70\/HSC70 chaperone clients in human cells","volume":"18","author":"Ryu","year":"2020","journal-title":"PLoS Biol."},{"key":"10.1016\/j.neuron.2023.02.004_bib51","doi-asserted-by":"crossref","first-page":"1659","DOI":"10.1021\/pr9006987","article-title":"Identification of novel interacting protein partners of SMN using tandem affinity purification","volume":"9","author":"Shafey","year":"2010","journal-title":"J.\u00a0Proteome Res."},{"key":"10.1016\/j.neuron.2023.02.004_bib52","doi-asserted-by":"crossref","first-page":"e686","DOI":"10.1038\/cddis.2013.209","article-title":"Survival motor neuron protein reduction deregulates autophagy in spinal cord motoneurons in\u00a0vitro","volume":"4","author":"Garcera","year":"2013","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.neuron.2023.02.004_bib53","doi-asserted-by":"crossref","first-page":"179","DOI":"10.3390\/biom12020179","article-title":"Similarity and diversity of presynaptic molecules at neuromuscular junctions and central synapses","volume":"12","author":"Takikawa","year":"2022","journal-title":"Biomolecules"},{"key":"10.1016\/j.neuron.2023.02.004_bib54","doi-asserted-by":"crossref","first-page":"9037","DOI":"10.1073\/pnas.122623799","article-title":"Total arrest of spontaneous and evoked synaptic transmission but normal synaptogenesis in the absence of Munc13-mediated vesicle priming","volume":"99","author":"Varoqueaux","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.neuron.2023.02.004_bib55","doi-asserted-by":"crossref","first-page":"5973","DOI":"10.1128\/MCB.25.14.5973-5984.2005","article-title":"Aberrant morphology and residual transmitter release at the Munc13-deficient mouse neuromuscular synapse","volume":"25","author":"Varoqueaux","year":"2005","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.neuron.2023.02.004_bib56","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.celrep.2018.06.024","article-title":"CAST\/ELKS proteins control voltage-gated Ca2+ channel density and synaptic release probability at a mammalian central synapse","volume":"24","author":"Dong","year":"2018","journal-title":"Cell Rep."},{"key":"10.1016\/j.neuron.2023.02.004_bib57","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1097\/WNR.0b013e3280287abe","article-title":"Localization of the active zone proteins CAST, ELKS, and Piccolo at neuromuscular junctions","volume":"18","author":"Tokoro","year":"2007","journal-title":"NeuroReport"},{"key":"10.1016\/j.neuron.2023.02.004_bib58","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.celrep.2017.09.028","article-title":"Post-transcriptional inhibition of Hsc70-4\/HSPA8 expression leads to synaptic vesicle cycling defects in multiple models of ALS","volume":"21","author":"Coyne","year":"2017","journal-title":"Cell Rep."},{"key":"10.1016\/j.neuron.2023.02.004_bib59","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.neuron.2023.02.004_bib60","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1093\/hmg\/ddv629","article-title":"Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset","volume":"25","author":"Feng","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuron.2023.02.004_bib61","doi-asserted-by":"crossref","first-page":"3404","DOI":"10.1093\/hmg\/ddy251","article-title":"Mild SMN missense alleles are only functional in the presence of SMN2 in mammals","volume":"27","author":"Iyer","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuron.2023.02.004_bib62","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.neuron.2023.02.004_bib63","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.neuron.2023.02.004_bib64","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.neuron.2023.02.004_bib65","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.\u00a0Neurosci."},{"key":"10.1016\/j.neuron.2023.02.004_bib66","doi-asserted-by":"crossref","first-page":"e15457","DOI":"10.1371\/journal.pone.0015457","article-title":"Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy","volume":"5","author":"Ling","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.neuron.2023.02.004_bib67","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1523\/JNEUROSCI.4496-09.2010","article-title":"Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice","volume":"30","author":"Ruiz","year":"2010","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.neuron.2023.02.004_bib68","doi-asserted-by":"crossref","first-page":"4406","DOI":"10.1093\/hmg\/ddx326","article-title":"A pathogenic S250F missense mutation results in a mouse model of mild aromatic L-amino acid decarboxylase (AADC) deficiency","volume":"26","author":"Caine","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuron.2023.02.004_bib69","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1172\/JCI72017","article-title":"Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation","volume":"124","author":"Kariya","year":"2014","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.neuron.2023.02.004_bib70","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/nbt.3049","article-title":"Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes","volume":"33","author":"Maury","year":"2015","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.neuron.2023.02.004_bib71","doi-asserted-by":"crossref","first-page":"3409","DOI":"10.1093\/hmg\/ddx230","article-title":"Astrocyte-produced miR-146a as a mediator of motor neuron loss in spinal muscular atrophy","volume":"26","author":"Sison","year":"2017","journal-title":"Hum. Mol. Genet."}],"container-title":["Neuron"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S089662732300082X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S089662732300082X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T07:44:46Z","timestamp":1760255086000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S089662732300082X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5]]},"references-count":71,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["S089662732300082X"],"URL":"https:\/\/doi.org\/10.1016\/j.neuron.2023.02.004","relation":{},"ISSN":["0896-6273"],"issn-type":[{"value":"0896-6273","type":"print"}],"subject":[],"published":{"date-parts":[[2023,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses","name":"articletitle","label":"Article Title"},{"value":"Neuron","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neuron.2023.02.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Inc.","name":"copyright","label":"Copyright"}]}}