Abstract
Model of the Role of the NCSTN mutation in impaired skin barrier in acne inversa. Notch and AMPK signaling are required for cholesterol biosynthesis in the skin to form a competent barrier. The decreased activity of γ-secretase resulted from NCSTN mutation decrease NICD and Hes1 expression. In response, Hes1 fails to inhibit AMPK activation, thereby inhibiting cholesterol biosynthesis that results in impairment of the skin barrier.
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