A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome

The Smith-Lemli-Opitz syndrome (SLOS) is an often lethal birth defect resulting from mutations in the gene responsible for the synthesis of the enzyme 3β-hydroxy-steroid-Δ7-reductase, which catalyzes the reduction of the double bond at carbon 7 on 7-dehydrocholesterol (7-DHC) to form unesterified ch...

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Bibliographic Details
Main Authors: Thomas N. Tulenko, Kathy Boeze-Battaglia, R. Preston Mason, G. Stephen Tint, Robert D. Steiner, William E. Connor, Edward F. Labelle
Format: Article
Language:English
Published: Elsevier 2006-01-01
Series:Journal of Lipid Research
Subjects:
7-dehydrocholesterol
3β-hydroxy-steroid-Δ7-reductase
birth defects
cell membrane
caveolae
rafts
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520336634

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http://www.sciencedirect.com/science/article/pii/S0022227520336634

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