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.

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/43ea2b21ac79408b93c3b274a42392fd
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spelling	oai:doaj.org-article:43ea2b21ac79408b93c3b274a42392fd2021-12-02T17:06:13ZPNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis10.1038/ncomms146092041-1723https://doaj.org/article/43ea2b21ac79408b93c3b274a42392fd2017-03-01T00:00:00Zhttps://doi.org/10.1038/ncomms14609https://doaj.org/toc/2041-1723Loss-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.Tetsuya HirabayashiTatsuki AnjoArisa KanekoYuuya SenooAkitaka ShibataHiroyuki TakamaKohei YokoyamaYasumasa NishitoTomio OnoChoji TayaKazuaki MuramatsuKiyoko FukamiAgustí Muñoz-GarciaAlan R. BrashKazutaka IkedaMakoto AritaMasashi AkiyamaMakoto MurakamiNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis
description	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.
format	article
author	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
author_facet	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
author_sort	Tetsuya Hirabayashi
title	PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis
title_short	PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis
title_full	PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis
title_fullStr	PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis
title_full_unstemmed	PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis
title_sort	pnpla1 has a crucial role in skin barrier function by directing acylceramide biosynthesis
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/43ea2b21ac79408b93c3b274a42392fd
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PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis

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