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PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides.
Grond S, Eichmann TO, Dubrac S, Kolb D, Schmuth M, Fischer J, Crumrine D, Elias PM, Haemmerle G, Zechner R, Lass A, Radner FPW. Grond S, et al. J Invest Dermatol. 2017 Feb;137(2):394-402. doi: 10.1016/j.jid.2016.08.036. Epub 2016 Oct 14. J Invest Dermatol. 2017. PMID: 27751867 Free PMC article.
Mutations in PNPLA1 have been identified as causative for autosomal recessive congenital ichthyosis in humans and dogs. So far, the underlying molecular mechanisms are unknown. In this study, we generated and characterized PNPLA1-deficient mice and found that PNP …
Mutations in PNPLA1 have been identified as causative for autosomal recessive congenital ichthyosis in humans and dogs. So far, the u …
Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase Deficiency Support a Specific Role in Lipid-Protein Cross-Linking.
Meyer JM, Crumrine D, Schneider H, Dick A, Schmuth M, Gruber R, Radner FPW, Grond S, Wakefield JS, Mauro TM, Elias PM. Meyer JM, et al. Am J Pathol. 2021 May;191(5):921-929. doi: 10.1016/j.ajpath.2021.02.005. Epub 2021 Feb 17. Am J Pathol. 2021. PMID: 33607042 Free PMC article.
These unbound CLEs were associated with defective post-secretory lipid processing, and were specific to 12R-LOX deficiency, because they were not observed with deficiency of the related ARCI-associated proteins, patatin-like phospholipase 1 (Pnpla1) or abhydrolase domain c …
These unbound CLEs were associated with defective post-secretory lipid processing, and were specific to 12R-LOX deficiency, because they wer …