7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome

Defective 3β-hydroxysterol-Δ7 -reductase (DHCR7) in the developmental disorder, Smith-Lemli-Opitz syndrome (SLOS), results in a deficiency in cholesterol and accumulation of its precursor, 7-dehydrocholesterol (7-DHC). Here, we show that loss of DHCR7 causes accumulation of 7-DHC-derived oxysterol m...

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Bibliographic Details
Main Authors: Hideaki Tomita, Kelly M Hines, Josi M Herron, Amy Li, David W Baggett, Libin Xu
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2022-09-01
Series:eLife
Subjects:
Online Access:https://elifesciences.org/articles/67141