Defective targeting of PNPLA1 to lipid droplets causes ichthyosis in ABHD5-syndromic epidermal differentiation disorder

ABHD5-syndromic epidermal differentiation disorder (ABHD5-sEDD; also known as Chanarin-Dorfman syndrome) is a rare autosomal recessive disorder caused by mutations in the α/β-hydrolase domain-containing 5 (ABHD5) gene, leading to systemic accumulation of neutral lipids and ichthyosis due to impaired...

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Bibliographic Details

Published in:	Journal of Lipid Research
Main Authors:	Margarita Schratter, David Holubek, Lukas Koeffler, Thomas Züllig, Thomas O. Eichmann, Heimo Wolinski, Monika Oberer, Achim Lass, Franz P.W. Radner
Format:	Article
Language:	English
Published:	Elsevier 2025-09-01
Subjects:	skin sphingolipids ceramides acylceramides triacylglycerol disease mechanisms
Online Access:	http://www.sciencedirect.com/science/article/pii/S0022227525001373