Ontology highlight
ABSTRACT:
SUBMITTER: Fliesler SJ
PROVIDER: S-EPMC6222618 | biostudies-other | 2018 Oct
REPOSITORIES: biostudies-other
Fliesler Steven J SJ Xu Libin L
Molecules (Basel, Switzerland) 20181022 10
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive human disease caused by mutations in the gene encoding 7-dehydrocholesterol (7DHC) reductase (DHCR7), resulting in abnormal accumulation of 7DHC and reduced levels of cholesterol in bodily tissues and fluids. A rat model of the disease has been created by treating normal rats with the DHCR7 inhibitor, AY9944, which causes progressive, irreversible retinal degeneration. Herein, we review the features of this disease model and the evidenc ...[more]