Ontology highlight
ABSTRACT:
SUBMITTER: Griffiths WJ
PROVIDER: S-EPMC5018427 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Griffiths William J WJ Abdel-Khalik Jonas J Crick Peter J PJ Ogundare Michael M Shackleton Cedric H CH Tuschl Karin K Kwok Mei Kwun MK Bigger Brian W BW Morris Andrew A AA Honda Akira A Xu Libin L Porter Ned A NA Björkhem Ingemar I Clayton Peter T PT Wang Yuqin Y
The Journal of steroid biochemistry and molecular biology 20160311
Smith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from defects in the cholesterol synthesising enzyme 7-dehydrocholesterol reductase (Δ<sup>7</sup>-sterol reductase, DHCR7, EC 1.3.1.21) leading to a build-up of the cholesterol precursor 7-dehydrocholesterol (7-DHC) in tissues and blood plasma. Although the underling enzyme deficiency associated with SLOS is clear there are likely to be multiple mechanisms responsible for SLOS pathology. In an effort to learn mo ...[more]