ArticleNature communications2017
PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide.
Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.
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Who cites it
63 citing papers in PubMed, 1 synthesis or guideline pooled it, 116 citations in OpenAlex.
- Alterations of Ultra Long-Chain Fatty Acids in Hereditary Skin Diseases-Review Article.Frontiers in medicine · 2021Pooled it
- Ceramide Metabolic Pathways and Their Regulation in Adolescent Acne Vulgaris.International journal of molecular sciences · 2026Review
- Chemogenetic Activation of GFASEB bioAdvances · 2026Article
- A standardized approach to test missenseJID innovations : skin science from molecules to population health · 2026Article
- Mfsd2a is important for maintaining epidermal homeostasis.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Specific organelle targeting as a key step in epidermal lipid synthesis.Frontiers in medicine · 2026Article
- Defective targeting of PNPLA1 to lipid droplets causes ichthyosis in ABHD5-syndromic epidermal differentiation disorder.Journal of lipid research · 2025Article
- The balancing act between lipid droplets and lysosomes for membrane functionality in age-related neurodegeneration and inflammation.Progress in lipid research · 2025Review
- Relationship between time-dependent epidermal ceramide composition changes and skin barrier function in adult mice.Molecular biology of the cell · 2025Article
- Jordans' anomaly in Chanarin-Dorfman syndrome.Advances in laboratory medicine · 2025Article
- Article
- Poly-γ-Glutamic Acid from a NovelInternational journal of molecular sciences · 2025Article
- Disorders of fatty acid homeostasis.Journal of inherited metabolic disease · 2025Review
- The Role of Linoleic Acid in Skin and Hair Health: A Review.International journal of molecular sciences · 2024Review
- Gut bacterial sphingolipid production modulates dysregulated skin lipid homeostasis.bioRxiv : the preprint server for biology · 2024Article
- Ionic composition of Shotokuseki extract alters cell differentiation and lipid metabolism in three-dimensional cultured human epidermis.Cytotechnology · 2024Article
- The PNPLA family of enzymes: characterisation and biological role.Arhiv za higijenu rada i toksikologiju · 2023Article
- Bifunctional DEGS2 has higher hydroxylase activity toward substrates with very-long-chain fatty acids in the production of phytosphingosine ceramides.The Journal of biological chemistry · 2023Article
- An ERAD-independent role for rhomboid pseudoprotease Dfm1 in mediating sphingolipid homeostasis.The EMBO journal · 2023Article
- Incomplete Elongation of Ultra-long-chain Polyunsaturated Acyl-CoAs by the Fatty Acid Elongase ELOVL4 in Spinocerebellar Ataxia Type 34.Molecular and cellular biology · 2023Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lipids are the primary components of the skin permeability barrier, which is the body's most powerful defensive mechanism against pathogens. Acylceramide (ω-O-acylceramide) is a specialized lipid essential for skin barrier formation. Here, we identify PNPLA1 as the long-sought gene involved in the final step of acylceramide synthesis, esterification of ω-hydroxyceramide with linoleic acid, by cell-based assays. We show that increasing triglyceride levels by overproduction of the diacylglycerol acyltransferase DGAT2 stimulates acylceramide production, suggesting that triglyceride may act as a linoleic acid donor. Indeed, the in vitro analyses confirm that PNPLA1 catalyses acylceramide synthesis using triglyceride as a substrate. Mutant forms of PNPLA1 found in patients with ichthyosis exhibit reduced or no enzyme activity in either cell-based or in vitro assays. Altogether, our results indicate that PNPLA1 is directly involved in acylceramide synthesis as a transacylase, and provide important insights into the molecular mechanisms of skin barrier formation and of ichthyosis pathogenesis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.