Molecular mechanism of the ichthyosis pathology of Chanarin–Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5

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Abstract

ABHD5 mutations cause Chanarin-Dorfman syndrome accompanied by ichthyosis. ω-O-Acylceramide (acylceramide) is essential for skin permeability barrier formation. Acylceramide production is impaired in Abhd5 knockout mice. The transacylase PNPLA1 catalyzes the final step of acylceramide production: transfer of linoleic acid in triglyceride to ω-hydroxyceramide.

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Journal

Title: Journal of Dermatological Science

Abbreviated Title: Journal of Dermatological Science

Publisher: Elsevier BV

ISSN (Print): 09231811

Publication date Created: November 2018

Publication date (Print): November 2018

Article

DOI: 10.1016/j.jdermsci.2018.11.005

PubMed ID: 30527376

SO-VID: 3568ea48-d89f-4a2b-9633-9ac81f970387

License:

https://www.elsevier.com/tdm/userlicense/1.0/

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