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Article

Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1.

Journal of dermatological science - 1 Aug 2022

Nohara Tomohiro, Ohno Yusuke, Kihara Akio

Abstract excerpt

BACKGROUND: PNPLA1 is a causative gene of autosomal recessive congenital ichthyosis. The transacylase PNPLA1 produces ω-O-acylceramides (acylceramides), lipids essential for the skin barrier function, by catalyzing the transfer of a linoleic acid from triglycerides to ω-hydroxyceramides. OBJECTIVE: We aimed to validate the involvement of PNPLA1 mutations found in ichthyosis patients in the pathogenesis and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35970721
DOI: 10.1016/j.jdermsci.2022.07.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1.PMID 35970721Read ↗

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