{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Elias PM"],"funding":["NIAMS NIH HHS"],"pagination":["353-61"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3966299"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["1841(3)"],"pubmed_abstract":["X-linked ichthyosis is a relatively common syndromic form of ichthyosis most often due to deletions in the gene encoding the microsomal enzyme, steroid sulfatase, located on the short area of the X chromosome. Syndromic features are mild or unapparent unless contiguous genes are affected. In normal epidermis, cholesterol sulfate is generated by cholesterol sulfotransferase (SULT2B1b), but desulfated in the outer epidermis, together forming a 'cholesterol sulfate cycle' that potently regulates epidermal differentiation, barrier function and desquamation. In XLI, cholesterol sulfate levels my exceed 10% of total lipid mass (≈1% of total weight). Multiple cellular and biochemical processes contribute to the pathogenesis of the barrier abnormality and scaling phenotype in XLI. This article is "],"journal":["Biochimica et biophysica acta"],"pubmed_title":["Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis."],"pmcid":["PMC3966299"],"funding_grant_id":["R01 AR061106","AR061106"],"pubmed_authors":["Williams ML","Choi EH","Elias PM","Feingold KR"],"additional_accession":[]},"is_claimable":false,"name":"Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.","description":"X-linked ichthyosis is a relatively common syndromic form of ichthyosis most often due to deletions in the gene encoding the microsomal enzyme, steroid sulfatase, located on the short area of the X chromosome. Syndromic features are mild or unapparent unless contiguous genes are affected. In normal epidermis, cholesterol sulfate is generated by cholesterol sulfotransferase (SULT2B1b), but desulfated in the outer epidermis, together forming a 'cholesterol sulfate cycle' that potently regulates epidermal differentiation, barrier function and desquamation. In XLI, cholesterol sulfate levels my exceed 10% of total lipid mass (≈1% of total weight). Multiple cellular and biochemical processes contribute to the pathogenesis of the barrier abnormality and scaling phenotype in XLI. This article is ","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 Mar","modification":"2025-04-04T08:41:17.166Z","creation":"2019-03-27T01:23:58Z"},"accession":"S-EPMC3966299","cross_references":{"pubmed":["24291327"],"doi":["10.1016/j.bbalip.2013.11.009"]}}