| http://purl.uniprot.org/citations/31671075 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31671075 | http://www.w3.org/2000/01/rdf-schema#comment | "The corneocyte lipid envelope, composed of covalently bound ceramides and fatty acids, is important to the integrity of the permeability barrier in the stratum corneum, and its absence is a prime structural defect in various skin diseases associated with defective skin barrier function. SDR9C7 encodes a short-chain dehydrogenase/reductase family 9C member 7 (SDR9C7) recently found mutated in ichthyosis. In a patient with SDR9C7 mutation and a mouse Sdr9c7-KO model, we show loss of covalent binding of epidermal ceramides to protein, a structural fault in the barrier. For reasons unresolved, protein binding requires lipoxygenase-catalyzed transformations of linoleic acid (18:2) esterified in ω-O-acylceramides. In Sdr9c7-/-epidermis, quantitative liquid chromatography-mass spectometry (LC-MS) assays revealed almost complete loss of a species of ω-O-acylceramide esterified with linoleate-9,10-trans-epoxy-11E-13-ketone; other acylceramides related to the lipoxygenase pathway were in higher abundance. Recombinant SDR9C7 catalyzed NAD+-dependent dehydrogenation of linoleate 9,10-trans-epoxy-11E-13-alcohol to the corresponding 13-ketone, while ichthyosis mutants were inactive. We propose, therefore, that the critical requirement for lipoxygenases and SDR9C7 is in producing acylceramide containing the 9,10-epoxy-11E-13-ketone, a reactive moiety known for its nonenzymatic coupling to protein. This suggests a mechanism for coupling of ceramide to protein and provides important insights into skin barrier formation and pathogenesis."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci130675"xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Tanaka K."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Ishikawa J."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Ohno T."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Okuno Y."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Kono M."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Watanabe D."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Akiyama M."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Hirabayashi T."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Takama H."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Muro Y."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Miyasaka Y."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Boeglin W.E."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Brash A.R."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Taguchi S."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Takeichi T."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Kawamoto A."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Calcutt M.W."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Tanahashi K."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/author | "Murase C."xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/name | "J Clin Invest"xsd:string |
| http://purl.uniprot.org/citations/31671075 | http://purl.uniprot.org/core/pages | "890-903"xsd:string |