Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.
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DOI: 10.1093/hmg/ddab309
Abstract: Functional skin barrier requires sphingolipid homeostasis. 3-ketodihydrosphingosine reductase or KDSR is a key enzyme of sphingolipid anabolism catalyzing the reduction of 3-ketodihydrosphingosine to sphinganine. Biallelic mutations in the KDSR gene may cause erythrokeratoderma variabilis et… read more here.
Keywords: formation keto; keto type; kdsr mutations; keto ... See more keywords