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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Detalhes bibliográficos
Publicado no:Nat Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4823163/
https://ncbi.nlm.nih.gov/pubmed/26998835
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nm.4067
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