Article
PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis.
Nature communications - 1 Mar 2017
Hirabayashi Tetsuya, Anjo Tatsuki, Kaneko Arisa, Senoo Yuuya, Shibata Akitaka, Takama Hiroyuki, Yokoyama Kohei, Nishito Yasumasa, Ono Tomio, Taya Choji, Muramatsu Kazuaki, Fukami Kiyoko, Muñoz-Garcia Agustí, Brash Alan R, Ikeda Kazutaka, Arita Makoto, Akiyama Masashi, Murakami Makoto
Abstract excerpt
Mutations in patatin-like phospholipase domain-containing 1 (PNPLA1) cause autosomal recessive congenital ichthyosis, but the mechanism involved remains unclear. Here we show that PNPLA1, an enzyme expressed in differentiated keratinocytes, plays a crucial role in the biosynthesis of ω-O-acylceramide, a lipid component essential for skin barrier. Global or keratinocyte-specific Pnpla1-deficient neonates die due...
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