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These patients have severe developmental brain malformations including microcephaly and cerebellar hypoplasia. However, the mechanism of\n                  <jats:italic>SMPD4<\/jats:italic>\n                  was not known and we pursued a new mouse model. We hypothesized that the role of\n                  <jats:italic>SMPD4<\/jats:italic>\n                  in producing ceramide is important for making primary cilia, a crucial organelle mediating cellular signaling. We found that the mouse model has cerebellar hypoplasia due to failure of Purkinje cell development. Human induced pluripotent stem cells exhibit neural progenitor cell death and have shortened primary cilia which is rescued by adding exogenous ceramide.\n                  <jats:italic>SMPD4<\/jats:italic>\n                  production of ceramide is crucial for human brain development.\n                <\/jats:p>","DOI":"10.1101\/2023.12.15.571873","type":"posted-content","created":{"date-parts":[[2023,12,16]],"date-time":"2023-12-16T15:10:11Z","timestamp":1702739411000},"source":"Crossref","is-referenced-by-count":1,"title":["<i>SMPD4<\/i>\n                  mediated sphingolipid metabolism regulates brain and primary cilia development"],"prefix":"10.64898","author":[{"given":"Katherine A.","family":"Inskeep","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bryan","family":"Crase","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4512-6806","authenticated-orcid":false,"given":"Rolf W.","family":"Stottmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"54368","reference":[{"key":"2023121916101318000_2023.12.15.571873v1.1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds546"},{"key":"2023121916101318000_2023.12.15.571873v1.2","doi-asserted-by":"publisher","DOI":"10.1007\/S12311-020-01224-5"},{"key":"2023121916101318000_2023.12.15.571873v1.3","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-7091-1368-4_3"},{"key":"2023121916101318000_2023.12.15.571873v1.4","doi-asserted-by":"publisher","DOI":"10.1002\/CNE.902310103"},{"key":"2023121916101318000_2023.12.15.571873v1.5","doi-asserted-by":"publisher","DOI":"10.1002\/CNE.902310104"},{"key":"2023121916101318000_2023.12.15.571873v1.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2008.02.067"},{"key":"2023121916101318000_2023.12.15.571873v1.7","doi-asserted-by":"publisher","DOI":"10.1038\/s41556-022-00934-8"},{"key":"2023121916101318000_2023.12.15.571873v1.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2013.12.015"},{"key":"2023121916101318000_2023.12.15.571873v1.9","doi-asserted-by":"crossref","unstructured":"Becerra-Solano, L.E. , Mateos-S\u00e1nchez, L. , L\u00f3pez-Mu\u00f1oz, E. and (2021). 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