Literature DB >> 9090293

The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis.

G S Tint1, A K Batta, G Xu, S Shefer, A Honda, M Irons, E R Elias, G Salen.   

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Year:  1997        PMID： 9090293     DOI： 10.1007/978-1-4615-5901-6_5

Source DB:  PubMed          Journal:  Subcell Biochem        ISSN： 0306-0225


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  7 in total

1.  Retinal structure and function in an animal model that replicates the biochemical hallmarks of desmosterolosis.

Authors:  S J Fliesler; M J Richards; C Miller; N S Peachey; R J Cenedella
Journal:  Neurochem Res       Date:  2000-05       Impact factor: 3.996

2.  7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome.

Authors:  B U Fitzky; F F Moebius; H Asaoka; H Waage-Baudet; L Xu; G Xu; N Maeda; K Kluckman; S Hiller; H Yu; A K Batta; S Shefer; T Chen; G Salen; K Sulik; R D Simoni; G C Ness; H Glossmann; S B Patel; G S Tint
Journal:  J Clin Invest       Date:  2001-09       Impact factor: 14.808

3.  Cholesterol synthesis in the vertebrate retina: effects of U18666A on rat retinal structure, photoreceptor membrane assembly, and sterol metabolism and composition.

Authors:  S J Fliesler; M J Richards; C Y Miller; R J Cenedella
Journal:  Lipids       Date:  2000-03       Impact factor: 1.880

4.  Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome.

Authors:  Zeljka Korade; Libin Xu; Richard Shelton; Ned A Porter
Journal:  J Lipid Res       Date:  2010-08-11       Impact factor: 5.922

5.  On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO.

Authors:  Ingemar Björkhem; Ulf Diczfalusy; Anita Lövgren-Sandblom; Lena Starck; Monica Jonsson; Keri Tallman; Henrik Schirmer; Lilian Bomme Ousager; Peter J Crick; Yuqin Wang; William J Griffiths; F Peter Guengerich
Journal:  J Lipid Res       Date:  2014-04-25       Impact factor: 5.922

6.  Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features.

Authors:  Steven J Fliesler; Neal S Peachey; Michael J Richards; Barbara A Nagel; Dana K Vaughan
Journal:  Arch Ophthalmol       Date:  2004-08

Review 7.  Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention.

Authors:  Steven J Fliesler; Libin Xu
Journal:  Molecules       Date:  2018-10-22       Impact factor: 4.411
  7 in total

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