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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...
Autores principales: | Tomita, Hideaki, Hines, Kelly M, Herron, Josi M, Li, Amy, Baggett, David W, Xu, Libin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
eLife Sciences Publications, Ltd
2022
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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 |
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