{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Griffiths WJ"],"funding":["Swedish Foundation for Strategic Research","European Union","Karolinska Institutet","Hjärnfonden","Swedish Research Council","Biotechnology and Biological Sciences Research Council","Cancerfonden","Beacon Convergence project","European Regional Development Fund"],"pagination":["191-211"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6327153"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["1864(2)"],"pubmed_abstract":["Cytochrome P450 (CYP) 27A1 is a key enzyme in both the acidic and neutral pathways of bile acid biosynthesis accepting cholesterol and ring-hydroxylated sterols as substrates introducing a (25R)26-hydroxy and ultimately a (25R)26-acid group to the sterol side-chain. In human, mutations in the CYP27A1 gene are the cause of the autosomal recessive disease cerebrotendinous xanthomatosis (CTX). Surprisingly, Cyp27a1 knockout mice (Cyp27a1-/-) do not present a CTX phenotype despite generating a similar global pattern of sterols. Using liquid chromatography - mass spectrometry and exploiting a charge-tagging approach for oxysterol analysis we identified over 50 cholesterol metabolites and precursors in the brain and circulation of Cyp27a1-/- mice. Notably, we identified (25R)26,7α- and (25S)26,7"],"journal":["Biochimica et biophysica acta. Molecular and cell biology of lipids"],"pubmed_title":["Additional pathways of sterol metabolism: Evidence from analysis of Cyp27a1-/- mouse brain and plasma."],"pmcid":["PMC6327153"],"funding_grant_id":["2011-3318","FO2015:0202","FO2017-0059","2018","2016-01526","BB/I001735/1","2016/572","VR2011-3116","BB/L001942/1","BB/N015932/1","SB16-0065"],"pubmed_authors":["Theofilopoulos S","Kelly DE","Yutuc E","Parker JE","Meljon A","Abdel-Khalik J","Kelly SL","Griffiths WJ","Arenas E","Wang Y","Crick PJ"],"additional_accession":[]},"is_claimable":false,"name":"Additional pathways of sterol metabolism: Evidence from analysis of Cyp27a1-/- mouse brain and plasma.","description":"Cytochrome P450 (CYP) 27A1 is a key enzyme in both the acidic and neutral pathways of bile acid biosynthesis accepting cholesterol and ring-hydroxylated sterols as substrates introducing a (25R)26-hydroxy and ultimately a (25R)26-acid group to the sterol side-chain. In human, mutations in the CYP27A1 gene are the cause of the autosomal recessive disease cerebrotendinous xanthomatosis (CTX). Surprisingly, Cyp27a1 knockout mice (Cyp27a1-/-) do not present a CTX phenotype despite generating a similar global pattern of sterols. Using liquid chromatography - mass spectrometry and exploiting a charge-tagging approach for oxysterol analysis we identified over 50 cholesterol metabolites and precursors in the brain and circulation of Cyp27a1-/- mice. Notably, we identified (25R)26,7α- and (25S)26,7","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Feb","modification":"2025-04-22T07:31:32.321Z","creation":"2019-03-26T22:47:32Z"},"accession":"S-EPMC6327153","cross_references":{"pubmed":["30471425"],"doi":["10.1016/j.bbalip.2018.11.006"]}}