[HTML][HTML] An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome [S]
The level of 7-dehydrocholesterol (7-DHC) is elevated in tissues and fluids of Smith-Lemli-
Opitz syndrome (SLOS) patients due to defective 7-DHC reductase. Although over a dozen
oxysterols have been identified from 7-DHC free radical oxidation in solution, oxysterol
profiles in SLOS cells and tissues have never been studied. We report here the identification
and complete characterization of a novel oxysterol, 3β, 5α-dihydroxycholest-7-en-6-one
(DHCEO), as a biomarker for 7-DHC oxidation in fibroblasts from SLOS patients and brain …
Opitz syndrome (SLOS) patients due to defective 7-DHC reductase. Although over a dozen
oxysterols have been identified from 7-DHC free radical oxidation in solution, oxysterol
profiles in SLOS cells and tissues have never been studied. We report here the identification
and complete characterization of a novel oxysterol, 3β, 5α-dihydroxycholest-7-en-6-one
(DHCEO), as a biomarker for 7-DHC oxidation in fibroblasts from SLOS patients and brain …