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

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-acylceramid...

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Veröffentlicht in:Nat Commun
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2017
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5337976/
https://ncbi.nlm.nih.gov/pubmed/28248300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms14609
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