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

Defective 3β-hydroxysterol-Δ(7) -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...

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Detalles Bibliográficos
Autores principales: Tomita, Hideaki, Hines, Kelly M, Herron, Josi M, Li, Amy, Baggett, David W, Xu, Libin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9519149/
https://www.ncbi.nlm.nih.gov/pubmed/36111785
http://dx.doi.org/10.7554/eLife.67141