{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T00:00:45Z","timestamp":1788825645296,"version":"build-2803163510"},"reference-count":52,"publisher":"Public Library of Science (PLoS)","issue":"7","license":[{"start":{"date-parts":[[2017,7,7]],"date-time":"2017-07-07T00:00:00Z","timestamp":1499385600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["2G12MD007592"],"award-info":[{"award-number":["2G12MD007592"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32MH015442"],"award-info":[{"award-number":["T32MH015442"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["RL5GM118969, TL4GM118971, UL1GM118970"],"award-info":[{"award-number":["RL5GM118969, TL4GM118971, UL1GM118970"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0180856","type":"journal-article","created":{"date-parts":[[2017,7,7]],"date-time":"2017-07-07T17:48:46Z","timestamp":1499449726000},"page":"e0180856","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":29,"title":["Functional analysis of the zebrafish ortholog of HMGCS1 reveals independent functions for cholesterol and isoprenoids in craniofacial development"],"prefix":"10.1371","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3596-1587","authenticated-orcid":true,"given":"Anita M.","family":"Quintana","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose A.","family":"Hernandez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesar G.","family":"Gonzalez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2017,7,7]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"R50","DOI":"10.1093\/hmg\/ddv228","article-title":"New insights into craniofacial malformations","volume":"24","author":"SRF Twigg","year":"2015","journal-title":"Hum Mol Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1002\/bdrc.21081","article-title":"The neural crest: a versatile organ system","volume":"102","author":"D Zhang","year":"2014","journal-title":"Birth Defects Res Part C Embryo Today Rev"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/S1388-1981(00)00160-8","article-title":"X-Linked dominant disorders of cholesterol biosynthesis in man and mouse","volume":"1529","author":"GE Herman","year":"2000","journal-title":"Biochim Biophys Acta"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1016\/S0242-6498(05)80136-1","article-title":"Smith-Lemli-Opitz syndrome","volume":"25","author":"F Pelluard-Nehm\u00e9","year":"2005","journal-title":"Ann Pathol"},{"key":"ref5","article-title":"Inhibition of the 3-hydroxy-3-methyl-glutaryl-CoA reductase induces orofacial defects in zebrafish","author":"IA Signore","year":"2016","journal-title":"Birt Defects Res A Clin Mol Teratol"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"42936","DOI":"10.1074\/jbc.M307228200","article-title":"Early embryonic lethality caused by targeted disruption of the 3-hydroxy-3-methylglutaryl-CoA reductase gene","volume":"278","author":"K Ohashi","year":"2003","journal-title":"J Biol Chem"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"13172","DOI":"10.1073\/pnas.240454797","article-title":"Isoprenoid biosynthesis: the evolution of two ancient and distinct pathways across genomes","volume":"97","author":"BM Lange","year":"2000","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"554","DOI":"10.4103\/2230-8210.163106","article-title":"Pleiotropic effects of statins","volume":"19","author":"N Kavalipati","year":"2015","journal-title":"Indian J Endocrinol Metab"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"3402","DOI":"10.1523\/JNEUROSCI.4587-13.2014","article-title":"Mutation of 3-hydroxy-3-methylglutaryl CoA synthase I reveals requirements for isoprenoid and cholesterol synthesis in oligodendrocyte migration arrest, axon wrapping, and myelin gene expression","volume":"34","author":"ES Mathews","year":"2014","journal-title":"J Neurosci Off J Soc Neurosci"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"2356","DOI":"10.1172\/JCI28988","article-title":"Severe facial clefting in Insig-deficient mouse embryos caused by sterol accumulation and reversed by lovastatin","volume":"116","author":"LJ Engelking","year":"2006","journal-title":"J Clin Invest"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1093\/hmg\/ddv507","article-title":"Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome","volume":"25","author":"R Blassberg","year":"2016","journal-title":"Hum Mol Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1097\/00008480-200312000-00011","article-title":"Human malformation syndromes due to inborn errors of cholesterol synthesis","volume":"15","author":"FD Porter","year":"2003","journal-title":"Curr Opin Pediatr"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1016\/S0960-9822(00)80052-4","article-title":"Inhibition of sonic hedgehog signaling in vivo results in craniofacial neural crest cell death","volume":"9","author":"SC Ahlgren","year":"1999","journal-title":"Curr Biol CB"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"65","DOI":"10.3109\/09687688.2015.1066895","article-title":"Sonic hedgehog multimerization: a self-organizing event driven by post-translational modifications?","volume":"32","author":"MV Koleva","year":"2015","journal-title":"Mol Membr Biol"},{"key":"ref15","first-page":"5753","article-title":"Mouse dispatched mutants fail to distribute hedgehog proteins and are defective in hedgehog signaling","volume":"129","author":"T Kawakami","year":"2002","journal-title":"Dev Camb Engl"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/nn2025","article-title":"CNS-derived glia ensheath peripheral nerves and mediate motor root development","volume":"11","author":"S Kucenas","year":"2008","journal-title":"Nat Neurosci"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/j.devcel.2013.10.015","article-title":"miR-219 regulates neural precursor differentiation by direct inhibition of apical par polarity proteins","volume":"27","author":"LI Hudish","year":"2013","journal-title":"Dev Cell"},{"key":"ref18","first-page":"1511","article-title":"Pard3 regulates contact between neural crest cells and the timing of Schwann cell differentiation but is not essential for neural crest migration or myelination","volume":"243","author":"AJ Blasky","year":"2014","journal-title":"Dev Dyn Off Publ Am Assoc Anat"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/S0168-9525(02)02820-2","article-title":"Web-based primer design for single nucleotide polymorphism analysis","volume":"18","author":"MM Neff","year":"2002","journal-title":"Trends Genet TIG"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.ydbio.2014.09.026","article-title":"Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression","volume":"396","author":"AM Quintana","year":"2014","journal-title":"Dev Biol"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nprot.2007.514","article-title":"High-resolution in situ hybridization to whole-mount zebrafish embryos","volume":"3","author":"C Thisse","year":"2008","journal-title":"Nat Protoc"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1242\/dmm.012526","article-title":"Zebrafish ETV7 regulates red blood cell development through the cholesterol synthesis pathway","volume":"7","author":"AM Quintana","year":"2014","journal-title":"Dis Model Mech"},{"key":"ref23","first-page":"2292","article-title":"miR-219 regulates neural progenitors by dampening apical Par protein-dependent Hedgehog signaling","volume":"143","author":"LI Hudish","year":"2016","journal-title":"Dev Camb Engl"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1002\/bies.20445","article-title":"Sorting out Sox10 functions in neural crest development","volume":"28","author":"RN Kelsh","year":"2006","journal-title":"BioEssays News Rev Mol Cell Dev Biol"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"3475","DOI":"10.1523\/JNEUROSCI.14-06-03475.1994","article-title":"Combinatorial expression of three zebrafish genes related to distal-less: part of a homeobox gene code for the head","volume":"14","author":"MA Akimenko","year":"1994","journal-title":"J Neurosci Off J Soc Neurosci"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/j.ydbio.2011.06.020","article-title":"Identification of an evolutionarily conserved regulatory element of the zebrafish col2a1a gene","volume":"357","author":"RM Dale","year":"2011","journal-title":"Dev Biol"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/S0022-2275(20)37449-6","article-title":"Ro 48\u20138.071, a new 2,3-oxidosqualene:lanosterol cyclase inhibitor lowering plasma cholesterol in hamsters, squirrel monkeys, and minipigs: comparison to simvastatin","volume":"38","author":"OH Morand","year":"1997","journal-title":"J Lipid Res"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1111\/j.1365-2184.2011.00771.x","article-title":"Cholesterol synthesis-related enzyme oxidosqualene cyclase is required to maintain self-renewal in primary erythroid progenitors","volume":"44","author":"C Mejia-Pous","year":"2011","journal-title":"Cell Prolif"},{"key":"ref29","article-title":"Hedgehog receptor function during craniofacial development","author":"GM Xavier","year":"2016","journal-title":"Dev Biol"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.3390\/cancers7040875","article-title":"Hedgehog Cholesterolysis: Specialized Gatekeeper to Oncogenic Signaling","volume":"7","author":"BP Callahan","year":"2015","journal-title":"Cancers"},{"key":"ref31","first-page":"133","article-title":"Mouse Disp1 is required in sonic hedgehog-expressing cells for paracrine activity of the cholesterol-modified ligand","volume":"132","author":"H Tian","year":"2005","journal-title":"Dev Camb Engl"},{"key":"ref32","first-page":"5753","article-title":"Mouse dispatched mutants fail to distribute hedgehog proteins and are defective in hedgehog signaling","volume":"129","author":"T Kawakami","year":"2002","journal-title":"Dev Camb Engl"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1186\/1471-213X-9-59","article-title":"Zebrafish con\/disp1 reveals multiple spatiotemporal requirements for Hedgehog-signaling in craniofacial development","volume":"9","author":"T Schwend","year":"2009","journal-title":"BMC Dev Biol"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1111\/j.1525-142X.2008.00300.x","article-title":"Expression of patched, prdm1 and engrailed in the lamprey somite reveals conserved responses to Hedgehog signaling","volume":"11","author":"KL Hammond","year":"2009","journal-title":"Evol Dev"},{"key":"ref35","first-page":"2835","article-title":"Spatial regulation of a zebrafish patched homologue reflects the roles of sonic hedgehog and protein kinase A in neural tube and somite patterning","volume":"122","author":"JP Concordet","year":"1996","journal-title":"Dev Camb Engl"},{"key":"ref36","first-page":"875","article-title":"The Patched gene is epigenetically regulated in ovarian dermoids and fibromas, but not in basocellular carcinomas","volume":"19","author":"M Cretnik","year":"2007","journal-title":"Int J Mol Med"},{"key":"ref37","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a008326","article-title":"Signals and Switches in Mammalian Neural Crest Cell Differentiation","volume":"5","author":"S Bhatt","year":"2013","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"13403","DOI":"10.1073\/pnas.0603730103","article-title":"Tcof1\/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities","volume":"103","author":"J Dixon","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1016\/j.ijporl.2014.03.006","article-title":"Treacher Collins Syndrome: the genetics of a craniofacial disease","volume":"78","author":"S Kadakia","year":"2014","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1016\/j.ydbio.2015.11.023","article-title":"Inactivation of Geminin in neural crest cells affects the generation and maintenance of enteric progenitor cells, leading to enteric aganglionosis","volume":"409","author":"A Stathopoulou","year":"2016","journal-title":"Dev Biol"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1111\/j.0009-9163.2006.00615.x","article-title":"Craniofacial malformations: intrinsic vs extrinsic neural crest cell defects in Treacher Collins and 22q11 deletion syndromes","volume":"69","author":"MB Walker","year":"2006","journal-title":"Clin Genet"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1517\/21678707.2015.1014472","article-title":"Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome","volume":"3","author":"SE Bianconi","year":"2015","journal-title":"Expert Opin Orphan Drugs"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1002\/ajmg.c.31343","article-title":"Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology","volume":"160C","author":"MJM Nowaczyk","year":"2012","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1111\/cge.12454","article-title":"Characterization of large deletions in the DHCR7 gene","volume":"88","author":"B Lanthaler","year":"2015","journal-title":"Clin Genet"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1021\/cb500791f","article-title":"Protein prenylation: enzymes, therapeutics, and biotechnology applications","volume":"10","author":"CC Palsuledesai","year":"2015","journal-title":"ACS Chem Biol"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/S0076-6879(05)07046-1","article-title":"Using inhibitors of prenylation to block localization and transforming activity","volume":"407","author":"AC Berzat","year":"2006","journal-title":"Methods Enzymol"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"7628","DOI":"10.1523\/JNEUROSCI.0726-16.2016","article-title":"Cholesterol Biosynthesis Supports Myelin Gene Expression and Axon Ensheathment through Modulation of P13K\/Akt\/mTor Signaling","volume":"36","author":"ES Mathews","year":"2016","journal-title":"J Neurosci Off J Soc Neurosci"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"1660","DOI":"10.1172\/JCI72688","article-title":"Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis","volume":"124","author":"H Kurosaka","year":"2014","journal-title":"J Clin Invest"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.ydbio.2013.09.013","article-title":"Inactivation of Cdc42 in neural crest cells causes craniofacial and cardiovascular morphogenesis defects","volume":"383","author":"Y Liu","year":"2013","journal-title":"Dev Biol"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1242\/dmm.020339","article-title":"RASopathies: unraveling mechanisms with animal models","volume":"8","author":"GA Jindal","year":"2015","journal-title":"Dis Model Mech"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.gde.2009.04.001","article-title":"The RASopathies: developmental syndromes of Ras\/MAPK pathway dysregulation","volume":"19","author":"WE Tidyman","year":"2009","journal-title":"Curr Opin Genet Dev"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1016\/S0002-9297(07)62934-6","article-title":"The Sonic Hedgehog\u2013Patched\u2013Gli Pathway in Human Development and Disease","volume":"67","author":"EH Villavicencio","year":"2000","journal-title":"Am J Hum Genet"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0180856","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,30]],"date-time":"2022-07-30T15:46:30Z","timestamp":1659195990000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0180856"}},"subtitle":[],"editor":[{"given":"Bruce B","family":"Riley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2017,7,7]]},"references-count":52,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2017,7,7]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0180856","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,7]]}}}