Literature DB >> 8808751

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

G Salen1, S Shefer, A K Batta, G S Tint, G Xu, A Honda, M Irons, E R Elias.   

Abstract

The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7-dehydrocholesterol-delta7-reductase, the enzyme that catalyzes the last reaction in cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. As a result, deficient cholesterol is produced and the precursor 7-dehydrocholesterol and derivatives (8-dehydrocholesterol and 19-nor-5,7,9(10)-cholestatrien-3 beta-ol) accumulate. Tissues (especially brain) deprived of cholesterol, or because of the deposited sterol precursors and derivatives, develop abnormally and function poorly. Replacement with dietary cholesterol may help correct the biochemical defects and improve symptoms.

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Year:  1996        PMID： 8808751

Source DB:  PubMed          Journal:  J Lipid Res        ISSN： 0022-2275            Impact factor:   5.922


  14 in total

1.  Serum lipids and apolipoproteins in children with the Smith-Lemli-Opitz syndrome.

Authors:  D Behúlová; V Bzdúch; J Skodová; A Dello Russo; G Corso; J Ponec; A Kasanická
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens.

Authors:  L Starck; A Lövgren
Journal:  Arch Dis Child       Date:  2000-06       Impact factor: 3.791

3.  Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome.

Authors:  Gongyi Ren; Robert F Jacob; Yuri Kaulin; Paul Dimuzio; Yi Xie; R Preston Mason; G Stephen Tint; Robert D Steiner; Jean-Baptiste Roullet; Louise Merkens; Diana Whitaker-Menezes; Philippe G Frank; Michael P Lisanti; Robert H Cox; Thomas N Tulenko
Journal:  Mol Genet Metab       Date:  2011-05-27       Impact factor: 4.797

4.  Differential cytotoxic effects of 7-dehydrocholesterol-derived oxysterols on cultured retina-derived cells: Dependence on sterol structure, cell type, and density.

Authors:  Bruce A Pfeffer; Libin Xu; Ned A Porter; Sriganesh Ramachandra Rao; Steven J Fliesler
Journal:  Exp Eye Res       Date:  2016-02-13       Impact factor: 3.467

5.  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

Review 6.  Holoprosencephaly: a paradigm for the complex genetics of brain development.

Authors:  E Roessler; M Muenke
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

7.  Prolactin receptor-associated protein/17beta-hydroxysteroid dehydrogenase type 7 gene (Hsd17b7) plays a crucial role in embryonic development and fetal survival.

Authors:  Aurora Shehu; Jifang Mao; Gil B Gibori; Julia Halperin; Jamie Le; Y Sangeeta Devi; Bradley Merrill; Hiroaki Kiyokawa; Geula Gibori
Journal:  Mol Endocrinol       Date:  2008-07-31

8.  ABCA1 plays no role in the centripetal movement of cholesterol from peripheral tissues to the liver and intestine in the mouse.

Authors:  Chonglun Xie; Stephen D Turley; John M Dietschy
Journal:  J Lipid Res       Date:  2009-03-12       Impact factor: 5.922

9.  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

10.  Hepatic isoprenoid metabolism in a rat model of Smith-Lemli-Opitz Syndrome.

Authors:  R Kennedy Keller; David A Mitchell; Christopher C Goulah; Steven J Fliesler
Journal:  Lipids       Date:  2013-01-30       Impact factor: 1.880
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