Article
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes.
Nature medicine - 1 Apr 2016
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
Abstract excerpt
Smith-Lemli-Opitz syndrome (SLOS) is a malformation disorder caused by mutations in DHCR7, which impair the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. SLOS results in cognitive impairment, behavioral abnormalities and nervous system defects, though neither affected cell types nor impaired signaling pathways are fully understood. Whether 7DHC accumulation or cholesterol loss is primarily responsible...
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