Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith–Lemli–Opitz syndrome
G Ren, RF Jacob, Y Kaulin, DM Paul, Y Xie… - Molecular genetics and …, 2011 - Elsevier
The Smith–Lemli–Opitz syndrome (SLOS) is an inherited disorder of cholesterol synthesis
caused by mutations in DHCR7 which encodes the final enzyme in the cholesterol synthesis
pathway. The immediate precursor to cholesterol synthesis, 7-dehydrocholesterol (7-DHC)
accumulates in the plasma and cells of SLOS patients which has led to the idea that the
accumulation of abnormal sterols and/or reduction in cholesterol underlies the phenotypic
abnormalities of SLOS. We tested the hypothesis that 7-DHC accumulates in membrane …
caused by mutations in DHCR7 which encodes the final enzyme in the cholesterol synthesis
pathway. The immediate precursor to cholesterol synthesis, 7-dehydrocholesterol (7-DHC)
accumulates in the plasma and cells of SLOS patients which has led to the idea that the
accumulation of abnormal sterols and/or reduction in cholesterol underlies the phenotypic
abnormalities of SLOS. We tested the hypothesis that 7-DHC accumulates in membrane …