Cholesterol storage defect in RSH/Smith–Lemli–Opitz syndrome fibroblasts
CA Wassif, D Vied, M Tsokos, WE Connor… - Molecular genetics and …, 2002 - Elsevier
The RSH/Smith–Lemli–Opitz syndrome (SLOS) is a multiple malformation/mental retardation
syndrome caused by an inborn error of cholesterol synthesis. Mutations in the 3β-
hydroxysteroid Δ7-reductase gene result in impaired enzymatic reduction of 7-
dehydrocholesterol (7-DHC) to cholesterol. Cells obtain cholesterol by either de novo
synthesis or from exogenous sources by the binding and uptake of low density lipoprotein
(LDL) particles. Because de novo synthesis of cholesterol is impaired in SLOS, current …
syndrome caused by an inborn error of cholesterol synthesis. Mutations in the 3β-
hydroxysteroid Δ7-reductase gene result in impaired enzymatic reduction of 7-
dehydrocholesterol (7-DHC) to cholesterol. Cells obtain cholesterol by either de novo
synthesis or from exogenous sources by the binding and uptake of low density lipoprotein
(LDL) particles. Because de novo synthesis of cholesterol is impaired in SLOS, current …
