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ABHD5 stimulates PNPLA1-mediated ω-O-acylceramide biosynthesis essential for a functional skin permeability barrier

Mutations in the genes coding for patatin-like phospholipase domain-containing 1 (PNPLA1) and α/β-hydrolase domain-containing 5 (ABHD5), also known as comparative gene identification 58, are causative for ichthyosis, a severe skin barrier disorder. Individuals with mutations in either of these genes...

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Detalles Bibliográficos
Autores principales:	Kien, Benedikt, Grond, Susanne, Haemmerle, Guenter, Lass, Achim, Eichmann, Thomas O., Radner, Franz P. W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The American Society for Biochemistry and Molecular Biology 2018
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277169/ https://www.ncbi.nlm.nih.gov/pubmed/30361410 http://dx.doi.org/10.1194/jlr.M089771

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