{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T13:09:14Z","timestamp":1762607354067,"version":"build-2065373602"},"reference-count":70,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2018,10,22]],"date-time":"2018-10-22T00:00:00Z","timestamp":1540166400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["R01 EY007361"],"award-info":[{"award-number":["R01 EY007361"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R00 HD073270","R01 HD092659"],"award-info":[{"award-number":["R00 HD073270","R01 HD092659"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["UL1 TR001412"],"award-info":[{"award-number":["UL1 TR001412"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","award":["Unrestricted Grant"],"award-info":[{"award-number":["Unrestricted Grant"]}],"id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007812","name":"University of Washington","doi-asserted-by":"publisher","award":["Start-up Funds"],"award-info":[{"award-number":["Start-up Funds"]}],"id":[{"id":"10.13039\/100007812","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecules"],"abstract":"<jats:p>Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive human disease caused by mutations in the gene encoding 7-dehydrocholesterol (7DHC) reductase (DHCR7), resulting in abnormal accumulation of 7DHC and reduced levels of cholesterol in bodily tissues and fluids. A rat model of the disease has been created by treating normal rats with the DHCR7 inhibitor, AY9944, which causes progressive, irreversible retinal degeneration. Herein, we review the features of this disease model and the evidence linking 7DHC-derived oxysterols to the pathobiology of the disease, with particular emphasis on the associated retinal degeneration. A recent study has shown that treating the rat model with cholesterol plus suitable antioxidants completely prevents the retinal degeneration. These findings are discussed with regard to their translational implications for developing an improved therapeutic intervention for SLOS over the current standard of care.<\/jats:p>","DOI":"10.3390\/molecules23102720","type":"journal-article","created":{"date-parts":[[2018,10,23]],"date-time":"2018-10-23T08:43:36Z","timestamp":1540284216000},"page":"2720","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2557-142X","authenticated-orcid":false,"given":"Steven J.","family":"Fliesler","sequence":"first","affiliation":[{"name":"Departments of Ophthalmology and Biochemistry and Neuroscience Program, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, The State University of New York, Buffalo, NY 14260, USA"},{"name":"Research Service, VA Western NY Healthcare System, Buffalo, NY 14260, USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1021-5200","authenticated-orcid":false,"given":"Libin","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Medicinal Chemistry, School of Pharmacy, University of Washington, Seattle, WA 98195, USA"}]}],"member":"1968","published-online":{"date-parts":[[2018,10,22]]},"reference":[{"key":"ref_1","first-page":"339","article-title":"Recherches chimiques sur les corps gras, et particuli\u00e8rement sur leurs combinaisons avec les alcalis. Sixi\u00e8me m\u00e9moire. Examen des graisses d\u2019homme, de mouton, de boeuf, de jaguar et d\u2019oie","volume":"2","author":"Chevreul","year":"1816","journal-title":"Ann. Chim. Phys."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"6423","DOI":"10.1021\/cr200021m","article-title":"Biosynthesis of cholesterol and other sterols","volume":"111","author":"Nes","year":"2011","journal-title":"Chem Rev."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Myant, N.B. (1981). The Biology of Cholesterol and Related Sterols, Butterworth-Heinemann. [1st ed.].","DOI":"10.1016\/B978-0-433-22880-6.50009-6"},{"key":"ref_4","unstructured":"Yeagle, P.L. (1988). Biology of Cholesterol, CRC Press."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Bittman, R. (1997). Cholesterol: Its functions and metabolism in biology and medicine. Subcellular Biochemistry, Plenum Press.","DOI":"10.1007\/978-1-4615-5901-6"},{"key":"ref_6","unstructured":"Finegold, L. (1993). Cholesterol in Membrane Models, CRC Press."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/0891-5849(89)90136-6","article-title":"Biological activities of oxysterols","volume":"7","author":"Smith","year":"1989","journal-title":"Free Radic Biol Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1016\/0300-9084(91)90095-I","article-title":"Oxysterols: Biological activities and physiochemical studies","volume":"73","author":"Luu","year":"1991","journal-title":"Biochemie"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0021-9150(98)00196-8","article-title":"Oxysterols and atherosclerosis","volume":"142","author":"Brown","year":"1999","journal-title":"Atherosclerosis"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1152\/physrev.2000.80.1.361","article-title":"Oxysterols: Modulators of cholesterol metabolism and other processes","volume":"80","author":"Schroepfer","year":"2000","journal-title":"Physiol. Rev."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1016\/j.bbrc.2014.04.001","article-title":"Oxysterols","volume":"446","author":"Griffiths","year":"2014","journal-title":"Biochim. Biophys. Res. Commun."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.plipres.2016.09.002","article-title":"Oxysterols: From cholesterol metabolites to key mediators","volume":"64","author":"Mutemberezi","year":"2016","journal-title":"Prog. Lipid Res."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.biochi.2018.06.006","article-title":"Implication of oxysterols in chronic inflammatory human diseases","volume":"153","author":"Testa","year":"2018","journal-title":"Biochemie"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/S0022-3476(64)80264-X","article-title":"A newly recognized syndrome of multiple congenital anomalies","volume":"64","author":"Smith","year":"1964","journal-title":"J. Pediatr."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/978-1-4615-5901-6_5","article-title":"The Smith-Lemli-Opitz syndrome: A potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis","volume":"28","author":"Tint","year":"1997","journal-title":"Subcell Biochem."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1194\/jlr.R009548","article-title":"Malformation syndromes caused by disorders of cholesterol synthesis","volume":"51","author":"Porter","year":"2011","journal-title":"J. Lipid Res."},{"key":"ref_17","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":"Nowaczyk","year":"2012","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.1017\/S146239941100189X","article-title":"Smith-Lemli-Opitz syndrome","volume":"13","author":"DeBarber","year":"2011","journal-title":"Expert Rev. Mol. Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1146\/annurev.genom.2.1.299","article-title":"Inborn errors of sterol biosynthesis","volume":"2","author":"Kelley","year":"2001","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1056\/NEJM199401133300205","article-title":"Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome","volume":"330","author":"Tint","year":"1994","journal-title":"N. Engl. J. Med."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/S0022-2275(20)39757-1","article-title":"Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome","volume":"36","author":"Tint","year":"1995","journal-title":"J. Lipid Res."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/ajmg.c.31340","article-title":"Disorders of sterol synthesis: Beyond Smith-Lemli-Opitz syndrome","volume":"160C","author":"Herman","year":"2012","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1111\/j.1469-8749.1977.tb08021.x","article-title":"Smith-Lemli-Opitz syndrome: Neuropathological and ophthalmological observations","volume":"19","author":"Fierro","year":"1977","journal-title":"Dev. Med. Child. Neurol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1738","DOI":"10.1001\/archopht.121.12.1738","article-title":"Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome","volume":"121","author":"Elias","year":"2003","journal-title":"Arch. Ophthalmol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/s10633-010-9232-3","article-title":"Cone ERG responses in patients with Smith-Lemli-Opitz syndrome (SLOS)","volume":"121","author":"Garry","year":"2010","journal-title":"Doc. Ophthalmol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.phrs.2014.03.002","article-title":"The pharmacology of statins","volume":"88","author":"Sirtori","year":"2014","journal-title":"Pharmacol. Res."},{"key":"ref_27","first-page":"843","article-title":"HMG-CoA reductase inhibitors: A look back and a look ahead","volume":"8","author":"Davignon","year":"1992","journal-title":"Can. J. Cardiol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/0006-2952(65)90233-9","article-title":"Agents affecting lipid metabolism\u2014XV. Biochemical studies with the cholesterol biosynthesis inhibitor AY-9944 in young and mature rats","volume":"14","author":"Givner","year":"1965","journal-title":"Biochem. Pharmacol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1021\/bi00867a035","article-title":"Agents affecting lipid metabolism. XXVIII: A 7-dehydrocholesterol delat-7-reductase inhibitor (AY-9944) as tool in studies of delta-7-sterol metabolism","volume":"5","author":"Kraml","year":"1966","journal-title":"Biochemistry"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/tera.1420190106","article-title":"Teratogenic action and embryo lethality of AY 9944R: Prevention by a hypercholesterolemia-provoking diet","volume":"19","author":"Roux","year":"1979","journal-title":"Teratology"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"2310","DOI":"10.1093\/jn\/110.11.2310","article-title":"Teratogenic effect of an inhibitor of cholesterol synthesis (AY 9944) in rats: Correlation with maternal cholesterolemia","volume":"110","author":"Roux","year":"1980","journal-title":"J. Nutrition."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/(SICI)1096-9926(199609)54:3<115::AID-TERA1>3.0.CO;2-2","article-title":"Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: A rat model for Smith-Lemli-Opitz syndrome","volume":"54","author":"Chevy","year":"1996","journal-title":"Teratology"},{"key":"ref_33","first-page":"1792","article-title":"Marked alteration of sterol metabolism and composition without compromising retinal development or function","volume":"40","author":"Fliesler","year":"1999","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1001\/archopht.122.8.1190","article-title":"Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: Electrophysiological, biochemical, and morphological features","volume":"122","author":"Fliesler","year":"2004","journal-title":"Arch. Ophthalmol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1111\/j.1751-1097.2009.00568.x","article-title":"Photodamage generates 7-keto- and 7-hydroxycholesterol in the rat retina via a free radical-mediated mechanism","volume":"85","author":"Rodriguez","year":"2009","journal-title":"Photochem. Photobiol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/S1011-1344(01)00227-5","article-title":"Retinal photodamage","volume":"64","author":"Boulton","year":"2001","journal-title":"J. Photochem. Photobiol. B"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.preteyeres.2009.11.004","article-title":"Retinal light damage: mechanisms and protection","volume":"29","author":"Organisciak","year":"2010","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.preteyeres.2011.11.001","article-title":"The susceptibility of the retina to photochemical damage from visible light","volume":"31","author":"Hunter","year":"2012","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"13037","DOI":"10.1021\/ja9029076","article-title":"Rate constants for peroxidation of polyunsaturated fatty acids and sterols in solution and in liposomes","volume":"131","author":"Xu","year":"2009","journal-title":"J. Am. Chem. Soc."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"3583","DOI":"10.1074\/mcp.M113.027847","article-title":"Ion-current-based proteomic profiling of the retina in a rat model of Smith-Lemli-Opitz syndrome","volume":"12","author":"Tu","year":"2013","journal-title":"Mol. Cell Proteomics"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/S0005-2736(01)00291-7","article-title":"Comparative behavior of sterols in phosphatidylcholine-sterol monolayer films","volume":"1511","author":"Serfis","year":"2001","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.chemphyslip.2009.06.139","article-title":"A comparison of the packing behavior of egg phosphatidylcholine with cholesterol and biogenically related sterols in Langmuir monolayer films","volume":"161","author":"Lintker","year":"2009","journal-title":"Chem. Phys. Lipids"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1194\/jlr.M300232-JLR200","article-title":"Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome","volume":"45","author":"Keller","year":"2004","journal-title":"J. Lipid Res."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"33540","DOI":"10.1074\/jbc.M104776200","article-title":"Effect of the structure of natural sterols and sphingolipids on the formation of ordered sphingolipid\/sterol domains (rafts): Comparison of cholesterol to plant, fungal, and disease-associated sterols and comparison of sphingomyelin, cerebrosides, and ceramide","volume":"276","author":"Xu","year":"2001","journal-title":"J. Biol. Chem."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"2222","DOI":"10.1021\/ja9080265","article-title":"Oxysterols from free radical chain oxidation of 7-dehydrocholesterol: Product and mechanistic studies","volume":"132","author":"Xu","year":"2010","journal-title":"J. Am. Chem. Soc."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"835","DOI":"10.3109\/10715762.2014.985219","article-title":"Free radical oxidation of cholesterol and its precursors: Implications in cholesterol biosynthesis disorders","volume":"49","author":"Xu","year":"2015","journal-title":"Free Radic. Res."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1194\/jlr.M014498","article-title":"An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell\/mouse models for Smith-Lemli-Opitz syndrome","volume":"52","author":"Xu","year":"2011","journal-title":"J. Lipid Res."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1194\/jlr.M035733","article-title":"Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells","volume":"54","author":"Xu","year":"2013","journal-title":"J. Lipid Res."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1810","DOI":"10.1194\/jlr.M018366","article-title":"Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome","volume":"52","author":"Xu","year":"2011","journal-title":"J. Lipid Res."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"33021","DOI":"10.1074\/jbc.M111.282434","article-title":"Conversion of 7-dehydrocholesterol to 7-ketocholesterol is catalyzed by human cytochrome P450 7A1 and occurs by direct oxidation without an epoxide intermediate","volume":"286","author":"Shinkyo","year":"2011","journal-title":"J. Biol. Chem."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1016\/j.nbd.2011.12.011","article-title":"DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model","volume":"45","author":"Xu","year":"2012","journal-title":"Neurobiol. Dis."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1097\/00041433-200110000-00008","article-title":"Mechanisms of oxysterol-induced apoptosis","volume":"12","author":"Panini","year":"2001","journal-title":"Curr. Opin. Lipidol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1590\/S0100-879X2008000700001","article-title":"Side effects of oxysterols: Cytotoxicity, oxidation, inflammation, and phospholipidosis","volume":"41","author":"Vejux","year":"2008","journal-title":"Braz. J. Med. Biol. Res."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/j.jnutbio.2009.01.001","article-title":"Oxysterols and mechanisms of apoptotic signaling: implications in the pathology of degenerative diseases","volume":"20","author":"Lordan","year":"2009","journal-title":"J. Nutr. Biochem."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/j.chemphyslip.2017.03.001","article-title":"Dietary phytochemicals in the protection against oxysterol-induced damage","volume":"207","author":"Cilla","year":"2017","journal-title":"Chem. Phys. Lipids."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"1933","DOI":"10.1194\/jlr.M051508","article-title":"Oxidation of 7-dehydrocholesterol and desmosterol by human cytochrome P450 46A1","volume":"55","author":"Goyal","year":"2014","journal-title":"J. Lipid Res."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.bbalip.2012.03.001","article-title":"7-Dehydrocholesterol-derived oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome","volume":"1821","author":"Xu","year":"2012","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"3259","DOI":"10.1194\/jlr.M009365","article-title":"Biological activities of 7-dehydrocholesterol-derived oxysterols: Implications for Smith-Lemli-Opitz syndrome","volume":"51","author":"Korade","year":"2010","journal-title":"J. Lipid Res."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.exer.2016.01.016","article-title":"Differential cytotoxic effects of 7-dehydrocholesterol-derived oxysterols on cultured retina-derived cells: Dependence on sterol structure, cell type, and density","volume":"145","author":"Pfeffer","year":"2016","journal-title":"Exp. Eye Res."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1016\/j.exer.2005.08.016","article-title":"Lipid hydroperoxide formation in the retina: Correlation with retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome","volume":"82","author":"Richards","year":"2006","journal-title":"Exp. Eye Res."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1016\/j.exer.2005.08.008","article-title":"Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome","volume":"82","author":"Vaughan","year":"2006","journal-title":"Exp. Eye Res."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"119","DOI":"10.4172\/2161-1041.1000119","article-title":"Antioxidants: The missing key to improved therapeutic intervention in Smith-Lemli-Opitz syndrome?","volume":"2","author":"Fliesler","year":"2013","journal-title":"Hereditary Genet."},{"key":"ref_63","unstructured":"Preedy, V.R. (2014). Retinal Degeneration and Cholesterol Deficiency. Handbook of Nutrition, Diet and the Eye, Elsevier. [1st ed.]."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1038\/s41598-018-19592-8","article-title":"Prevention of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome","volume":"8","author":"Fliesler","year":"2018","journal-title":"Sci Rep."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"2842","DOI":"10.1194\/jlr.M041061","article-title":"Probing lipid-protein adduction with alkynyl surrogates: Application to Smith-Lemli-Opitz syndrome","volume":"54","author":"Windsor","year":"2013","journal-title":"J. Lipid Res."},{"key":"ref_66","doi-asserted-by":"crossref","unstructured":"Kapphahn, R.J., Richards, M.J., Ferrington, D.A., and Fliesler, S.J. (2018). Lipid-derived and other oxidative modifications of retinal proteins in a rat model of Smith-Lemli-Opitz syndrome. Exp Eye Res., in press.","DOI":"10.1016\/j.exer.2018.08.006"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"2000","DOI":"10.1001\/archopht.1981.03930020876013","article-title":"Ocular manifestations of the Smith-Lemli-Opitz syndrome","volume":"99","author":"Kretzer","year":"1981","journal-title":"Arch. Ophthalmol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1093\/hmg\/10.6.555","article-title":"Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH\/Smith-Lemli-Opitz syndrome","volume":"10","author":"Wassif","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1172\/JCI200112103","article-title":"7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz\/RSH syndrome","volume":"108","author":"Fitzky","year":"2001","journal-title":"J. Clin. Investig."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1093\/hmg\/ddl003","article-title":"Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy","volume":"15","author":"Wassif","year":"2006","journal-title":"Hum. Mol. Genet."}],"container-title":["Molecules"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1420-3049\/23\/10\/2720\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T15:25:22Z","timestamp":1760196322000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1420-3049\/23\/10\/2720"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,22]]},"references-count":70,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2018,10]]}},"alternative-id":["molecules23102720"],"URL":"https:\/\/doi.org\/10.3390\/molecules23102720","relation":{},"ISSN":["1420-3049"],"issn-type":[{"type":"electronic","value":"1420-3049"}],"subject":[],"published":{"date-parts":[[2018,10,22]]}}}