{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:44:49Z","timestamp":1791215089677,"version":"4.1.0"},"reference-count":115,"publisher":"The Company of Biologists","issue":"22","license":[{"start":{"date-parts":[[2024,11,15]],"date-time":"2024-11-15T00:00:00Z","timestamp":1731628800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100007172","name":"Cincinnati Children's Hospital Medical Center","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100007172","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100007520","name":"Nationwide Children's Hospital","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100007520","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"crossref","award":["R35GM131875"],"award-info":[{"award-number":["R35GM131875"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Institute of Child Health and Human Development","award":["F31HD104350"],"award-info":[{"award-number":["F31HD104350"]}]},{"name":"Ohio State University"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,15]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Genetic variants in multiple sphingolipid biosynthesis genes cause human brain disorders. A recent study looked at people from 12 unrelated families with variants in the gene SMPD4, a neutral sphingomyelinase that metabolizes sphingomyelin into ceramide at an early stage of the biosynthesis pathway. These individuals have severe developmental brain malformations, including microcephaly and cerebellar hypoplasia. The disease mechanism of SMPD4 was not known and so we pursued a new mouse model. We hypothesized that the role of SMPD4 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 lacking SMPD4 exhibit neural progenitor cell death and have shortened primary cilia, which is rescued by adding exogenous ceramide. SMPD4 production of ceramide is crucial for human brain development.<\/jats:p>","DOI":"10.1242\/dev.202645","type":"journal-article","created":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T07:30:47Z","timestamp":1730187047000},"source":"Crossref","is-referenced-by-count":9,"title":["<i>SMPD4<\/i>\n                    -mediated sphingolipid metabolism regulates brain and primary cilia development"],"prefix":"10.1242","volume":"151","author":[{"given":"Katherine A.","family":"Inskeep","sequence":"first","affiliation":[{"name":"Cincinnati Children's Hospital Medical Center 1 Division of Developmental Biology , , Cincinnati, OH 45229 ,","place":["USA"]},{"name":"Nationwide Children's Hospital 2 Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute , , Columbus, OH 43205 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan","family":"Crase","sequence":"additional","affiliation":[{"name":"The Ohio State University College of Arts and Sciences 3 Department of Neuroscience , , Columbus, OH 43210 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thamara","family":"Dayarathna","sequence":"additional","affiliation":[{"name":"Nationwide Children's Hospital 2 Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute , , Columbus, OH 43205 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4512-6806","authenticated-orcid":false,"given":"Rolf W.","family":"Stottmann","sequence":"additional","affiliation":[{"name":"Nationwide Children's Hospital 2 Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute , , Columbus, OH 43205 ,","place":["USA"]},{"name":"The Ohio State University College of Medicine 4 Department of Pediatrics , , Columbus, OH 43210 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2024,11,15]]},"reference":[{"key":"2024111513435630600_DEV202645C1","doi-asserted-by":"publisher","first-page":"1358","DOI":"10.1093\/hmg\/dds546","article-title":"Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel\u2013Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and wnt signalling defects","volume":"22","author":"Abdelhamed","year":"2013","journal-title":"Hum. 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