Dr. Stephen Young is a cardiologist and molecular geneticist working to understand genes relevant to human disease. He focuses on two areas: plasma triglyceride metabolism and diseases of the nuclear envelope. He is an expert on creating and analyzing genetically modified mouse models. Recent studies have identified an endothelial cell protein, GPIHBP1, which is required for shuttling lipoprotein lipase (LPL) to the capillary lumen. Without GPIHBP1, LPL remains mislocalized in the interstitial spaces, resulting in severe hypertriglyceridemia. In recent years, Young has also worked on the role of the nuclear lamina in the developing brain and has worked on strategies to treat diseases caused by defects in lamin A.
Jung HJ, Coffinier C, Choe Y, Beigneux AP, Davies BS, Yang SH, Barnes RH 2nd, Hong J, Sun T, Pleasure SJ, Young SG, Fong LG. Regulation of prelamin A but not lamin C by miR-9, a brain-specific microRNA. Proc Natl Acad Sci U S A. 2012 Feb 14;109(7):E423-31. Epub 2012 Jan 30.
Young SG, Jung HJ, Coffinier C, Fong LG. Understanding the roles of nuclear A- and B-type lamins in brain development. J Biol Chem. 2012 May 11;287(20):16103-10. Epub 2012 Mar 13.
Voss CV, Davies BS, Tat S, Gin P, Fong LG, Pelletier C, Mottler CD, Bensadoun A, Beigneux AP, Young SG. Mutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1. Proc Natl Acad Sci U S A. 2011 May 10;108(19):7980-4. Epub 2011 Apr 25.
Coffinier C, Jung HJ, Nobumori C, Chang S, Tu Y, Barnes RH 2nd, Yoshinaga Y, de Jong PJ, Vergnes L, Reue K, Fong LG, Young SG. Deficiencies in lamin B1 and lamin B2 cause neurodevelopmental defects and distinct nuclear shape abnormalities in neurons. Mol Biol Cell. 2011 Dec;22(23):4683-93. Epub 2011 Oct 5.
Davies BS, Beigneux AP, Barnes RH 2nd, Tu Y, Gin P, Weinstein MM, Nobumori C, Nyren R, Goldberg I, Olivecrona G, Bensadoun A, Young SG, Fong LG. GPIHBP1 is responsible for the entry of lipoprotein lipase into capillaries. Cell Metab. 2010 Jul 4;12(1):42-52.