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Epidermal 1-O-acylceramides appear with the establishment of the water permeability barrier in mice and are produced by maturating keratinocytes.
Rabionet M, Bernard P, Pichery M, Marsching C, Bayerle A, Dworski S, Kamani MA, Chitraju C, Gluchowski NL, Gabriel KR, Asadi A, Ebel P, Hoekstra M, Dumas S, Ntambi JM, Jacobsson A, Willecke K, Medin JA, Jonca N, Sandhoff R. Rabionet M, et al. Among authors: jonca n. Lipids. 2022 May;57(3):183-195. doi: 10.1002/lipd.12342. Epub 2022 Mar 23. Lipids. 2022. PMID: 35318678
PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier.
Pichery M, Huchenq A, Sandhoff R, Severino-Freire M, Zaafouri S, Opálka L, Levade T, Soldan V, Bertrand-Michel J, Lhuillier E, Serre G, Maruani A, Mazereeuw-Hautier J, Jonca N. Pichery M, et al. Among authors: jonca n. Hum Mol Genet. 2017 May 15;26(10):1787-1800. doi: 10.1093/hmg/ddx079. Hum Mol Genet. 2017. PMID: 28369476
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