Genomes and Genes
Stephen G Young
Affiliation: University of California
- Turlo K, Leung C, Seo J, Goulbourne C, Adeyo O, Gin P, et al. Equivalent binding of wild-type lipoprotein lipase (LPL) and S447X-LPL to GPIHBP1, the endothelial cell LPL transporter. Biochim Biophys Acta. 2014;1841:963-9 pubmed publisher..We conclude that increased binding of S447X-LPL to GPIHBP1 is unlikely to be the explanation for more efficient lipolysis and lower plasma triglyceride levels in S447X carriers. ..
- Young S, Davies B, Voss C, Gin P, Weinstein M, Tontonoz P, et al. GPIHBP1, an endothelial cell transporter for lipoprotein lipase. J Lipid Res. 2011;52:1869-84 pubmed publisher..We also discuss the human genetics of LPL transport, focusing on cases of chylomicronemia caused by GPIHBP1 mutations that abolish GPIHBP1's ability to bind LPL, and LPL mutations that prevent LPL binding to GPIHBP1. ..
- Young S, Davies B, Fong L, Gin P, Weinstein M, Bensadoun A, et al. GPIHBP1: an endothelial cell molecule important for the lipolytic processing of chylomicrons. Curr Opin Lipidol. 2007;18:389-96 pubmed
- Adeyo O, Allan B, Barnes R, Goulbourne C, Tatar A, Tu Y, et al. Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice. J Invest Dermatol. 2014;134:1589-1598 pubmed publisher..Thus, Slurp1 deficiency in mice elicits metabolic and neuromuscular abnormalities in addition to PPK. ..
- Young S, Zechner R. Biochemistry and pathophysiology of intravascular and intracellular lipolysis. Genes Dev. 2013;27:459-84 pubmed publisher..This review summarizes current views of lipolysis and highlights the relevance of this process to human disease. ..
- Goulbourne C, Gin P, Tatar A, Nobumori C, Hoenger A, Jiang H, et al. The GPIHBP1-LPL complex is responsible for the margination of triglyceride-rich lipoproteins in capillaries. Cell Metab. 2014;19:849-60 pubmed publisher..Our studies show that GPIHBP1-bound LPL is the main determinant of TRL margination. ..
- Young S, Jung H, Coffinier C, Fong L. Understanding the roles of nuclear A- and B-type lamins in brain development. J Biol Chem. 2012;287:16103-10 pubmed publisher..The relevance of lamins A and C in the brain remains unclear, but it is intriguing that prelamin A expression in the brain is low and is regulated by miR-9, a brain-specific microRNA. ..
- Allan C, Procaccia S, Tran D, Tu Y, Barnes R, Larsson M, et al. Palmoplantar Keratoderma in Slurp2-Deficient Mice. J Invest Dermatol. 2016;136:436-443 pubmed publisher..Slurp2X(-/-) mice exhibited the same disease phenotypes. Thus, Slurp2 deficiency and Slurp1 deficiencies cause the same disease phenotypes. ..
- Fong L, Young S, Beigneux A, Bensadoun A, Oberer M, Jiang H, et al. GPIHBP1 and Plasma Triglyceride Metabolism. Trends Endocrinol Metab. 2016;27:455-469 pubmed publisher..The discovery of GPIHBP1 has substantially revised our understanding of intravascular triglyceride metabolism but has also raised many new questions for future research. ..
- Hu X, Dallinga Thie G, Hovingh G, Chang S, Sandoval N, Dang T, et al. GPIHBP1 autoantibodies in a patient with unexplained chylomicronemia. J Clin Lipidol. 2017;11:964-971 pubmed publisher..Additional studies in large lipid clinics will be helpful for better defining the frequency of this syndrome and for exploring the best strategies for treatment. ..
- Young S, Meta M, Yang S, Fong L. Prelamin A farnesylation and progeroid syndromes. J Biol Chem. 2006;281:39741-5 pubmed..Also, administering an FTI to mouse models of HGPS and RD ameliorates the phenotypes of progeria. These studies have prompted interest in testing the efficacy of FTIs in children with HGPS. ..
- Young S, Fong L, Michaelis S. Prelamin A, Zmpste24, misshapen cell nuclei, and progeria--new evidence suggesting that protein farnesylation could be important for disease pathogenesis. J Lipid Res. 2005;46:2531-58 pubmed