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Article

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

Molecular genetics and metabolism - 1 Nov 2011

Ren Gongyi, Jacob Robert F, Kaulin Yuri, Dimuzio Paul, Xie Yi, Mason R Preston, Tint G Stephen, Steiner Robert D, Roullet Jean-Baptiste, Merkens Louise, Whitaker-Menezes Diana, Frank Philippe G, Lisanti Michael P, Cox Robert H, Tulenko Thomas N

Abstract excerpt

The Smith-Lemli-Opitz syndrome (SLOS) is an inherited disorder of cholesterol synthesis caused by mutations in DHCR7 which encodes the final enzyme in the cholesterol synthesis pathway. The immediate precursor to cholesterol synthesis, 7-dehydrocholesterol (7-DHC) accumulates in the plasma and cells of SLOS patients which has led to the idea that the accumulation of abnormal sterols and/or reduction in...

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Source

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Identifiers

PMID: 21724437
DOI: 10.1016/j.ymgme.2011.04.019
PMCID: PMC3365561

Genes

DHCR7

Provenance

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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