Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.

Eitemau Tebyg

• Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats.
  gan: Xu, G, et al.
  Cyhoeddwyd: (1995)
• Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.
  gan: Waterham, H R, et al.
  Cyhoeddwyd: (1998)
• Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome
  gan: Korade, Zeljka, et al.
  Cyhoeddwyd: (2010)
• 7-Dehydrocholesterol–dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome
  gan: Fitzky, Barbara U., et al.
  Cyhoeddwyd: (2001)
• An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome
  gan: Xu, Libin, et al.
  Cyhoeddwyd: (2011)