Nature Communications (Mar 2017)
PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis
- 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
Affiliations
- Tetsuya Hirabayashi
- Lipid Metabolism Project, Tokyo Metropolitan Institute of Medical Science
- Tatsuki Anjo
- Lipid Metabolism Project, Tokyo Metropolitan Institute of Medical Science
- Arisa Kaneko
- Lipid Metabolism Project, Tokyo Metropolitan Institute of Medical Science
- Yuuya Senoo
- Laboratory for Metabolomics, RIKEN Center for Integrative Medical Sciences
- Akitaka Shibata
- Department of Dermatology, Nagoya University Graduate School of Medicine
- Hiroyuki Takama
- Department of Dermatology, Nagoya University Graduate School of Medicine
- Kohei Yokoyama
- Lipid Metabolism Project, Tokyo Metropolitan Institute of Medical Science
- Yasumasa Nishito
- Center for Basic Technology Research, Tokyo Metropolitan Institute of Medical Science
- Tomio Ono
- Center for Basic Technology Research, Tokyo Metropolitan Institute of Medical Science
- Choji Taya
- Center for Basic Technology Research, Tokyo Metropolitan Institute of Medical Science
- Kazuaki Muramatsu
- Division of Life Science and Engineering, School of Science and Engineering, Tokyo Denki University
- Kiyoko Fukami
- Laboratory of Genome and Biosignals, Tokyo University of Pharmacy and Life Sciences
- Agustí Muñoz-Garcia
- Department of Evolution, Ecology, and Organismal Biology, Ohio State University
- Alan R. Brash
- Vanderbilt Institute of Chemical Biology, Vanderbilt University
- Kazutaka Ikeda
- Laboratory for Metabolomics, RIKEN Center for Integrative Medical Sciences
- Makoto Arita
- Laboratory for Metabolomics, RIKEN Center for Integrative Medical Sciences
- Masashi Akiyama
- Department of Dermatology, Nagoya University Graduate School of Medicine
- Makoto Murakami
- Lipid Metabolism Project, Tokyo Metropolitan Institute of Medical Science
- DOI
- https://doi.org/10.1038/ncomms14609
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 13
Abstract
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.
