Article

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

2021-02-01

Abstract excerpt

Defective 3β-hydroxysterol-Δ 7 -reductase (DHCR7) in the developmental disorder, Smith-Lemli-Opitz syndrome (SLOS), results in 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 metabolites, premature neurogenesis, and perturbation of neuronal localization in developing murine or human cortical...

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Literature Corpus work: ef7120f5-f5f1-55ac-acbd-3deed2c8923d
DOI: 10.1101/2021.01.30.428955

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