PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis

PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis

Loss-of-function mutations inPNPLA1, a gene encoding an enzyme with unknown function, cause dry and scaling skin in humans. Using mouse models with PNPLA1 deficiency, the authors show that PNPLA1 participates in the biosynthesis of acylceramide, a lipid component essential for skin barrier function.

Bibliographic Details
Main Authors: Tetsuya Hirabayashi, Tatsuki Anjo, Arisa Kaneko, Yuuya Senoo, Akitaka Shibata, Hiroyuki Takama, Kohei Yokoyama, Yasumasa Nishito, Tomio Ono, Choji Taya, Kazuaki Muramatsu, Kiyoko Fukami, Agustí Muñoz-Garcia, Alan R. Brash, Kazutaka Ikeda, Makoto Arita, Masashi Akiyama, Makoto Murakami
Format: Article
Language:English
Published: Nature Portfolio 2017-03-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/ncomms14609

Internet

https://doi.org/10.1038/ncomms14609

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