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Article

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

Journal of lipid research - 1 Jan 2006

Tulenko Thomas N, Boeze-Battaglia Kathy, Mason R Preston, Tint G Stephen, Steiner Robert D, Connor William E, Labelle Edward F

Abstract excerpt

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 3beta-hydroxy-steroid-Delta7-reductase, which catalyzes the reduction of the double bond at carbon 7 on 7-dehydrocholesterol (7-DHC) to form unesterified cholesterol. We hypothesize that the deficiency in cholesterol biosynthesis and subsequent accumulation of...

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Identifiers

PMID: 16258167
DOI: 10.1194/jlr.M500306-JLR200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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