Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome

[1]  P. Clayton,et al.  Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients , 2017, The Journal of Steroid Biochemistry and Molecular Biology.

[2]  A. Gropman,et al.  A Placebo-Controlled Trial of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome , 2016, Genetics in Medicine.

[3]  S. Fliesler,et al.  Differential cytotoxic effects of 7-dehydrocholesterol-derived oxysterols on cultured retina-derived cells: Dependence on sterol structure, cell type, and density. , 2016, Experimental eye research.

[4]  F. Porter,et al.  Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith–Lemli–Opitz syndrome , 2015, Expert opinion on orphan drugs.

[5]  C. Futter,et al.  Phagosome maturation during endosome interaction revealed by partial rhodopsin processing in retinal pigment epithelium , 2014, Journal of Cell Science.

[6]  K. Mirnics,et al.  Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome , 2014, Biological Psychiatry.

[7]  S. Fliesler.  Retinal Degeneration and Cholesterol Deficiency , 2014 .

[8]  Fliesler Sj.  On the Role of Membrane Structural Defects in Smith-Lemli-Opitz Syndrome , 2013 .

[9]  S. Fliesler.  Antioxidants: The Missing Key to Improved Therapeutic Intervention in Smith-Lemli-Opitz Syndrome? , 2013, Hereditary genetics : current research.

[10]  Z. Korade,et al.  Probing lipid-protein adduction with alkynyl surrogates: application to Smith-Lemli-Opitz syndrome[S] , 2013, Journal of Lipid Research.

[11]  Chengjian Tu,et al.  Ion-current-based Proteomic Profiling of the Retina in a Rat Model of Smith-Lemli-Opitz Syndrome* , 2013, Molecular & Cellular Proteomics.

[12]  W. Griffiths,et al.  Analysis by liquid chromatography-mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7(Δ3-5/T93M) mouse: a model of Smith-Lemli-Opitz syndrome. , 2013, Biochemical pharmacology.

[13]  Libin Xu,et al.  Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells[S] , 2013, Journal of Lipid Research.

[14]  R. Steiner,et al.  Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients[S] , 2013, Journal of Lipid Research.

[15]  K. Mirnics,et al.  Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome , 2013, Journal of Inherited Metabolic Disease.

[16]  R. Steiner,et al.  Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders , 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

[17]  R. Hennekam,et al.  Mutational spectrum of Smith–Lemli–Opitz syndrome , 2012, American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.

[18]  M. Nowaczyk,et al.  Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology , 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

[19]  Libin Xu,et al.  7-Dehydrocholesterol-derived oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome. , 2012, Biochimica et Biophysica Acta.

[20]  K. Mirnics,et al.  DHCEO accumulation is a critical mediator of pathophysiology in a Smith–Lemli–Opitz syndrome model , 2012, Neurobiology of Disease.

[21]  Libin Xu,et al.  Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome[S] , 2011, Journal of Lipid Research.

[22]  Libin Xu,et al.  An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome[S] , 2011, Journal of Lipid Research.

[23]  R. Shelton,et al.  Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome[S] , 2010, Journal of Lipid Research.

[24]  Libin Xu,et al.  Oxysterols from free radical chain oxidation of 7-dehydrocholesterol: product and mechanistic studies. , 2010, Journal of the American Chemical Society.

[25]  S. Fliesler.  Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency. , 2010, Advances in experimental medicine and biology.

[26]  R. Spector.  Nutrient transport systems in brain: 40 years of progress , 2009, Journal of neurochemistry.

[27]  Libin Xu,et al.  Rate constants for peroxidation of polyunsaturated fatty acids and sterols in solution and in liposomes. , 2009, Journal of the American Chemical Society.

[28]  S. Fliesler,et al.  A comparison of the packing behavior of egg phosphatidylcholine with cholesterol and biogenically related sterols in Langmuir monolayer films. , 2009, Chemistry and physics of lipids.

[29]  R. Steiner,et al.  Effects of Dietary Cholesterol and Simvastatin on Cholesterol Synthesis in Smith-Lemli-Opitz Syndrome , 2009, Pediatric Research.

[30]  M. J. Richards,et al.  Lipidomic analysis of the retina in a rat model of Smith–Lemli–Opitz syndrome: alterations in docosahexaenoic acid content of phospholipid molecular species , 2008, Journal of neurochemistry.

[31]  F. Porter.  Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management , 2008, European Journal of Human Genetics.

[32]  A. Vingrys,et al.  Rodent electroretinography: Methods for extraction and interpretation of rod and cone responses , 2008, Progress in Retinal and Eye Research.

[33]  J. Zschocke,et al.  Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS) , 2007, Journal of Inherited Metabolic Disease.

[34]  M. J. Richards,et al.  Partial Rescue of Retinal Function and Sterol Steady-State in a Rat Model of Smith-Lemli-Opitz Syndrome , 2007, Pediatric Research.

[35]  I. Rodriguez,et al.  Uptake of cholesterol by the retina occurs primarily via a low density lipoprotein receptor-mediated process. , 2006, Molecular vision.

[36]  M. J. Richards,et al.  Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome. , 2006, Experimental eye research.

[37]  M. J. Richards,et al.  Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome. , 2006, Experimental eye research.

[38]  S. Fliesler,et al.  A comparison of the behavior of cholesterol and selected derivatives in mixed sterol-phospholipid Langmuir monolayers: a fluorescence microscopy study. , 2005, Chemistry and physics of lipids.

[39]  F. Porter,et al.  3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome , 2005 .

[40]  F. Porter,et al.  3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. , 2005, Molecular genetics and metabolism.

[41]  M. J. Richards,et al.  Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features. , 2004, Archives of ophthalmology.

[42]  Steve Meaney,et al.  Brain Cholesterol: Long Secret Life Behind a Barrier , 2004, Arteriosclerosis, thrombosis, and vascular biology.

[43]  M. Naash,et al.  Expression of cone-photoreceptor-specific antigens in a cell line derived from retinal tumors in transgenic mice. , 2004, Investigative ophthalmology & visual science.

[44]  S. Fliesler,et al.  Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome Published, JLR Papers in Press, November 1, 2003. DOI 10.1194/jlr.M300232-JLR200 , 2004, Journal of Lipid Research.

[45]  R. Hansen,et al.  Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. , 2003, Archives of ophthalmology.

[46]  M. Berry,et al.  Selenium and selenoproteins in the brain and brain diseases , 2003, Journal of neurochemistry.

[47]  J. Taipale,et al.  A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis , 2003, Nature Genetics.

[48]  R. Hennekam,et al.  The Smith-Lemli-Opitz syndrome , 2000, Journal of Medical Genetics.

[49]  F. Chevy,et al.  Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: a rat model for Smith-Lemli-Opitz syndrome. , 1996, Teratology.

[50]  W. Robinson,et al.  Pathogenesis, Diagnosis, and Management , 1996 .

[51]  A. Diplock.  Safety of antioxidant vitamins and beta-carotene. , 1995, The American journal of clinical nutrition.

[52]  A. Tappel,et al.  Protection of vitamin E, selenium, trolox C, ascorbic acid palmitate, acetylcysteine, coenzyme Q0, coenzyme Q10, beta-carotene, canthaxanthin, and (+)-catechin against oxidative damage to rat blood and tissues in vivo. , 1995, Free radical biology & medicine.

[53]  G Salen,et al.  Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. , 1994, The New England journal of medicine.

[54]  R. Cote,et al.  Antigen retrieval technique utilizing citrate buffer or urea solution for immunohistochemical demonstration of androgen receptor in formalin-fixed paraffin sections. , 1993, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

[55]  M. Al-Ubaidi,et al.  Bilateral retinal and brain tumors in transgenic mice expressing simian virus 40 large T antigen under control of the human interphotoreceptor retinoid-binding protein promoter , 1992, The Journal of cell biology.

[56]  G. Aguirre,et al.  The cone matrix sheath in the normal and diseased retina: cytochemical and biochemical studies of peanut agglutinin-binding proteins in cone and rod-cone degeneration. , 1991, Experimental eye research.

[57]  S. Kuroki,et al.  Esterified and total 7 alpha-hydroxycholesterol in human serum as an indicator for hepatic bile acid synthesis. , 1990, Journal of lipid research.

[58]  D. Anderson,et al.  Comparison of photoreceptor-specific matrix domains in the cat and monkey retinas. , 1990, Experimental eye research.

[59]  P. Hargrave,et al.  Localization of binding sites for carboxyl terminal specific anti-rhodopsin monoclonal antibodies using synthetic peptides. , 1984, Biochemistry.

[60]  I. Fand,et al.  Whole-body localization of 14C-tocopheryl acetate in the rat following oral administration. , 1981, Archives internationales de pharmacodynamie et de therapie.

[61]  F. C. Johnson.  The antioxidant vitamins. , 1979, CRC critical reviews in food science and nutrition.

[62]  K. Brown,et al.  The electroretinogram: its components and their origins. , 1968, UCLA forum in medical sciences.

[63]  日本ゴム株式会社.  40 years of progress , 1958 .