{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T02:37:27Z","timestamp":1790908647572,"version":"4.1.0"},"reference-count":29,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP18K07796"],"award-info":[{"award-number":["JP18K07796"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP19K06659"],"award-info":[{"award-number":["JP19K06659"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuroscience Letters"],"published-print":{"date-parts":[[2020,11]]},"DOI":"10.1016\/j.neulet.2020.135449","type":"journal-article","created":{"date-parts":[[2020,10,25]],"date-time":"2020-10-25T10:42:09Z","timestamp":1603622529000},"page":"135449","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"special_numbering":"C","title":["A novel Drosophila model for neurodevelopmental disorders associated with Shwachman\u2013Diamond syndrome"],"prefix":"10.1016","volume":"739","author":[{"given":"Akari","family":"Takai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiro","family":"Chiyonobu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ibuki","family":"Ueoka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryo","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takenori","family":"Tozawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideki","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masafumi","family":"Morimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hajime","family":"Hosoi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masamitsu","family":"Yamaguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.neulet.2020.135449_bib0005","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1016\/j.tig.2019.07.004","article-title":"Ribosomopathies: old concepts, new controversies","volume":"35","author":"Farley-Barnes","year":"2019","journal-title":"Trends Genet."},{"key":"10.1016\/j.neulet.2020.135449_bib0010","doi-asserted-by":"crossref","first-page":"4305","DOI":"10.1182\/blood-2011-06-353938","article-title":"Defective ribosome assembly in Shwachman-Diamond syndrome","volume":"118","author":"Wong","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.neulet.2020.135449_bib0015","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/j.stem.2013.04.002","article-title":"Pluripotent stem cell models of shwachman-diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction","volume":"12","author":"Tulpule","year":"2013","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.neulet.2020.135449_bib0020","doi-asserted-by":"crossref","first-page":"3232","DOI":"10.1242\/dev.077107","article-title":"Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development","volume":"139","author":"Provost","year":"2012","journal-title":"Development"},{"key":"10.1016\/j.neulet.2020.135449_bib0025","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.3324\/haematol.2015.131573","article-title":"Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes","volume":"100","author":"Zambetti","year":"2015","journal-title":"Haematologica"},{"key":"10.1016\/j.neulet.2020.135449_bib0030","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.jpeds.2009.09.026","article-title":"The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of shwachman-bodian-Diamond syndrome gene function","volume":"156","author":"Kerr","year":"2010","journal-title":"J. Pediatr."},{"key":"10.1016\/j.neulet.2020.135449_bib0035","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1182\/blood-2005-02-0807","article-title":"The Shwachman-Diamond SBDS protein localizes to the nucleolus","volume":"106","author":"Austin","year":"2005","journal-title":"Blood"},{"key":"10.1016\/j.neulet.2020.135449_bib0040","doi-asserted-by":"crossref","first-page":"6656","DOI":"10.1128\/MCB.00091-06","article-title":"Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality","volume":"26","author":"Zhang","year":"2006","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.neulet.2020.135449_bib0045","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.jinsphys.2016.07.007","article-title":"Optimization of wrMTrck to monitor Drosophila larval locomotor activity","author":"Brooks","year":"2016","journal-title":"J. Insect Physiol."},{"key":"10.1016\/j.neulet.2020.135449_bib0050","doi-asserted-by":"crossref","DOI":"10.1101\/pdb.prot071639","article-title":"Odor\u2013Taste learning assays in Drosophila larvae","volume":"2013","author":"Gerber","year":"2013","journal-title":"Cold Spring Harb. Protoc."},{"key":"10.1016\/j.neulet.2020.135449_bib0055","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/j.yexcr.2017.12.010","article-title":"A new Drosophila model of Ubiquilin knockdown shows the effect of impaired proteostasis on locomotive and learning abilities","volume":"362","author":"Jantrapirom","year":"2018","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.neulet.2020.135449_bib0060","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.expneurol.2015.12.011","article-title":"Knockdown of the Drosophila FIG4 induces deficient locomotive behavior, shortening of motor neuron, axonal targeting aberration, reduction of life span and defects in eye development","volume":"277","author":"Kyotani","year":"2016","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.neulet.2020.135449_bib0065","doi-asserted-by":"crossref","first-page":"4278","DOI":"10.1093\/hmg\/ddx316","article-title":"Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy","volume":"26","author":"Farhan","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neulet.2020.135449_bib0070","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.26975","article-title":"A connectome of a learning and memory center in the adult Drosophila brain","volume":"6","author":"Takemura","year":"2017","journal-title":"Elife"},{"key":"10.1016\/j.neulet.2020.135449_bib0075","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1055\/s-0035-1550151","article-title":"Sleep in children with neurodevelopmental disabilities","volume":"46","author":"Angriman","year":"2015","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.neulet.2020.135449_bib0080","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1038\/nature19097","article-title":"Circadian neuron feedback controls the Drosophila sleep\u2013activity profile","volume":"536","author":"Guo","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.neulet.2020.135449_bib0085","first-page":"1","article-title":"Assaying locomotor activity to study circadian rhythms and sleep parameters in Drosophila","author":"Chiu","year":"2010","journal-title":"J. Vis. Exp."},{"key":"10.1016\/j.neulet.2020.135449_bib0090","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1002\/wdev.108","article-title":"Development and plasticity of the Drosophila larval neuromuscular junction","volume":"2","author":"Menon","year":"2013","journal-title":"Wiley Interdiscip. Rev. Dev. Biol."},{"key":"10.1016\/j.neulet.2020.135449_bib0095","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.expneurol.2017.10.027","article-title":"Novel Drosophila model for psychiatric disorders including autism spectrum disorder by targeting of ATP-binding cassette protein A","volume":"300","author":"Ueoka","year":"2018","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.neulet.2020.135449_bib0100","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1008288","article-title":"The Drosophila ERG channel seizure plays a role in the neuronal homeostatic stress response","volume":"15","author":"Hill","year":"2019","journal-title":"PLoS Genet."},{"key":"10.1016\/j.neulet.2020.135449_bib0105","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1083\/jcb.200812150","article-title":"Maturation of active zone assembly by Drosophila bruchpilot","volume":"186","author":"Fouquet","year":"2009","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.neulet.2020.135449_bib0110","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1182\/blood-2016-08-735431","article-title":"Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome","volume":"129","author":"Dhanraj","year":"2017","journal-title":"Blood"},{"key":"10.1016\/j.neulet.2020.135449_bib0115","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1136\/jmedgenet-2016-104366","article-title":"Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome","volume":"54","author":"Stepensky","year":"2017","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.neulet.2020.135449_bib0120","doi-asserted-by":"crossref","first-page":"4090","DOI":"10.1172\/JCI92876","article-title":"Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond\u2013like features","volume":"127","author":"Carapito","year":"2017","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.neulet.2020.135449_bib0125","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1182\/blood-2017-12-820308","article-title":"Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond\u2013like syndrome","volume":"132","author":"Bellann\u00e9-Chantelot","year":"2018","journal-title":"Blood"},{"key":"10.1016\/j.neulet.2020.135449_bib0130","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.jbior.2017.09.002","article-title":"Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome","volume":"67","author":"Warren","year":"2018","journal-title":"Adv. Biol. Regul."},{"key":"10.1016\/j.neulet.2020.135449_bib0135","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1111\/jnc.14576","article-title":"Ribosomal biogenesis as an emerging target of neurodevelopmental pathologies","volume":"148","author":"Hetman","year":"2019","journal-title":"J. Neurochem."},{"key":"10.1016\/j.neulet.2020.135449_bib0140","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/j.yexcr.2018.08.001","article-title":"Hippo, Drosophila MST, is a novel modifier of motor neuron degeneration induced by knockdown of Caz, Drosophila FUS","volume":"371","author":"Azuma","year":"2018","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.neulet.2020.135449_bib0145","article-title":"Novel genetic link between the ATP-binding cassette subfamily A gene and hippo gene in Drosophila","author":"Ueoka","year":"2019","journal-title":"Exp. Cell Res."}],"container-title":["Neuroscience Letters"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0304394020307199?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0304394020307199?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T20:36:56Z","timestamp":1759610216000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0304394020307199"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":29,"alternative-id":["S0304394020307199"],"URL":"https:\/\/doi.org\/10.1016\/j.neulet.2020.135449","relation":{},"ISSN":["0304-3940"],"issn-type":[{"value":"0304-3940","type":"print"}],"subject":[],"published":{"date-parts":[[2020,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel Drosophila model for neurodevelopmental disorders associated with Shwachman\u2013Diamond syndrome","name":"articletitle","label":"Article Title"},{"value":"Neuroscience Letters","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neulet.2020.135449","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"135449"}}