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| http://dx.doi.org/10.1016/j.jaad.2023.10.025 | DOI Listing |
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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 activation of patatin-like phospholipase domain-containing (PNPLAs) proteins. While ABHD5 is a well-known co-activator of adipose triglyceride lipase (ATGL, also referred to as PNPLA2), its role in epidermal lipid metabolism is incompletely understood. Here, we identify ABHD5 as a key regulator of PNPLA1, an enzyme essential for ω-O-acylceramide (acylCer) synthesis and skin barrier formation.
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