cholesta-5,8-dien-3 beta-ol

08/01/2003 - "27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway."
01/25/2002 - "Smith-Lemli-Opitz syndrome (SLOS) patients have increased 7- and 8-dehydrocholesterol (DHC) concentrations. "
04/01/1995 - "Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome."
11/22/2002 - "Soon after the discovery of reduced cholesterol synthesis in the Smith-Lemli-Opitz syndrome (SLOS), several trials with dietary supplementation were initiated with the aim of increasing cholesterol and reducing the de novo synthesis and accumulation of 7- and 8-dehydrocholesterol (DHC). "
05/01/2013 - "Smith-Lemli-Opitz (SLOS), or RSH syndrome, is an autosomal recessive deficiency of 7-dehydrocholesterol reductase (DHCR7) resulting in an accumulation of 7- and 8-dehydrocholesterol (7- and 8-DHC) in tissues and body fluids. "

07/01/2008 - "High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation."
01/01/2008 - "Diagnosis of Conradi-Hünermann-Happle syndrome was confirmed by plasma sterol analysis showing markedly elevated levels of 8(9)-cholestenol and 8-dehydrocholesterol and by detection of a missense mutation (c.307G>A; p.E103K) in the emopamil-binding protein gene. "
03/01/2008 - "In this study, we demonstrate abnormal accumulation of sterol precursors of cholesterol in membrane lipid rafts (detergent resistance membranes) prepared from liver tissues of these 2 infants: 8-dehydrocholesterol and 7-dehydrocholesterol in lipid rafts of the infant with Smith-Lemli-Opitz syndrome and cholest-8(9)-ene-3beta-ol in lipid rafts of the infant with X-linked dominant chondrodysplasia punctata. "

07/01/2015 - "Smith-Lemli-Opitz syndrome (SLOS) is an inherited metabolic disease in the cholesterol biosynthesis pathway which is characterised by accumulation of 7- and 8-dehydrocholesterol and by reduced cholesterol concentrations in all tissues and body fluids. "

05/01/2014 - "SLOS is caused by a defect in 3β-hydroxysterol Δ(7)-reductase which leads to decreased cholesterol levels and elevated cholesterol precursors, specifically 7- and 8-dehydrocholesterol. "

06/01/1996 - "The ratio of 8-dehydrocholesterol to 7-dehydrocholesterol is higher in human SLO than in the animal disease model. "