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...

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Detalles Bibliográficos
Autores principales: Francis, Kevin R., Ton, Amy N., Xin, Yao, O’Halloran, Peter E., Wassif, Christopher A., Malik, Nasir, Williams, Ian M., Cluzeau, Celine V., Trivedi, Niraj S., Pavan, William J., Cho, Wonhwa, Westphal, Heiner, Porter, Forbes D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
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

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