21 citations
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March 2018 in “American Journal Of Pathology” In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.
1 citations
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January 2012 in “Journal of The Society of Japanese Women Scientists” This study analyzed the lipid composition of mouse hair, focusing on sphingolipids, and found significant differences in ceramides, glucosylceramides, and sphingomyelins between hair follicles and hair shafts.
40 citations
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July 2019 in “Journal of Investigative Dermatology” In this study, knockout mice lacking the Cyp4f39 gene showed severe skin barrier dysfunction and high early mortality, suggesting its critical role in skin barrier formation and insights into ichthyosis pathogenesis.
5 citations
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March 2019 in “Journal of lipid research” This study reports new fluorogenic ceramidase substrates and highlights RBM14C24:1 as an efficient substrate for neutral ceramidase, while RBM15C18:1 is the best probe for measuring ACER1 and ACER2 activities, potentially aiding high-throughput screening for ceramidase inhibitors.
211 citations
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March 2011 in “Journal of Lipid Research” This study reports a novel LC/MS method that separates and analyzes all known ceramide subclasses in human stratum corneum, identifying a new subclass, CER [EOdS], with minimal sample preparation.