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    • On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO 

      Björkhem, Ingemar; Diczfalusy, Ulf; Lövgren-Sandblom, Anita; Starck, Lena; Jonsson, Monica; Tallman, Keri; Schirmer, Henrik; Ousager, Lillian Bomme; Crick, Peter J; Wang, Yuqing; Griffiths, William J; Guengerich, F.Peter (Journal article; Tidsskriftartikkel; Peer reviewed, 2014-04-25)
      Abstract A new mechanism for formation of 7-ketocholesterol was recently described involving cytochrome P-450 (CYP)7A1-catalyzed conversion of 7-dehydrocholesterol into 7-ketocholesterol with cholesterol-7,8-epoxide as a side product. Some patients with cerebrotendinous xanthomatosis (CTX) and all patients with Smith-Lemli-Opitz syndrome (SLO) have markedly increased levels of 7-dehydrocholesterol ...