• Biology
  • Published 2014

Abstract 229: Development of a Conditional Knockout of Cholesterol Synthesis in the Mouse

@inproceedings{Weerasekera2014Abstract2D,
  title={Abstract 229: Development of a Conditional Knockout of Cholesterol Synthesis in the Mouse},
  author={Ranjuna Weerasekera and Alison McKenzie and Joseph Emmer and Yanhong Cai and Kriya Patel and Roman Tyshynsky and Shailendra B Patel},
  year={2014}
}
Dhcr24 (3β-hydroxysteroid-Δ24 reductase) is responsible for reducing the C24-C25 double bond in sterol intermediates of cholesterol and this step is necessary to synthesize cholesterol. In humans, mutations in the Dhcr24 gene cause desmosterolosis (OMIM #602398), characterized by severe developmental abnormalities and elevated levels of desmosterol in plasma and tissue. The first case was reported in 1998 when a premature infant died shortly after birth, had elevated levels of desmosterol and… CONTINUE READING