Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes

Kevin R Francis, Amy N Ton,Yao Xin, Peter E O'Halloran,Christopher A Wassif,Nasir Malik,Ian M Williams,Celine V Cluzeau,Niraj S Trivedi,William J Pavan,Wonhwa Cho,Heiner Westphal,Forbes D Porter

NATURE MEDICINE（2016）

引用 40|浏览27

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摘要

nalysis of SLOS patient-derived iPSCs reveals that cellular accumulation of the cholesterol precursor 7DHC, rather than cholesterol deficiency, causes dysregulation of Wnt/β-catenin signaling and aberrant neural differentiation.

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关键词

Development,Disease genetics,Neural progenitors,Lipid-storage diseases,Neurodevelopmental disorders

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