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Modeling Smith-Lemli-Opitz syndrome with iPS cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes
Smith-Lemli-Opitz syndrome (SLOS) is a malformation disorder caused by mutations in DHCR7, impairing the reduction of 7-dehydrocholesterol to cholesterol. SLOS results in cognitive impairment, behavioral abnormalities, and nervous system defects, though neither cellular targets nor affected signalin...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4823163/ https://www.ncbi.nlm.nih.gov/pubmed/26998835 http://dx.doi.org/10.1038/nm.4067 |