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Page 1
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function.
Zeissig S, Dougan SK, Barral DC, Junker Y, Chen Z, Kaser A, Ho M, Mandel H, McIntyre A, Kennedy SM, Painter GF, Veerapen N, Besra GS, Cerundolo V, Yue S, Beladi S, Behar SM, Chen X, Gumperz JE, Breckpot K, Raper A, Baer A, Exley MA, Hegele RA, Cuchel M, Rader DJ, Davidson NO, Blumberg RS. Zeissig S, et al. Among authors: hegele ra. J Clin Invest. 2010 Aug;120(8):2889-99. doi: 10.1172/JCI42703. Epub 2010 Jul 1. J Clin Invest. 2010. PMID: 20592474 Free PMC article.
Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans.
Edmondson AC, Brown RJ, Kathiresan S, Cupples LA, Demissie S, Manning AK, Jensen MK, Rimm EB, Wang J, Rodrigues A, Bamba V, Khetarpal SA, Wolfe ML, Derohannessian S, Li M, Reilly MP, Aberle J, Evans D, Hegele RA, Rader DJ. Edmondson AC, et al. Among authors: hegele ra. J Clin Invest. 2009 Apr;119(4):1042-50. doi: 10.1172/JCI37176. Epub 2009 Mar 16. J Clin Invest. 2009. PMID: 19287092 Free PMC article.
HDL re-examined.
Hovingh GK, Rader DJ, Hegele RA. Hovingh GK, et al. Among authors: hegele ra. Curr Opin Lipidol. 2015 Apr;26(2):127-32. doi: 10.1097/MOL.0000000000000161. Curr Opin Lipidol. 2015. PMID: 25692348 Review.
A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis.
Ueda M, Dunbar RL, Wolska A, Sikora TU, Escobar MDR, Seliktar N, deGoma E, DerOhannessian S, Morrell L, McIntyre AD, Burke F, Sviridov D, Amar M, Shamburek RD, Freeman L, Hegele RA, Remaley AT, Rader DJ. Ueda M, et al. Among authors: hegele ra. J Clin Endocrinol Metab. 2017 May 1;102(5):1454-1457. doi: 10.1210/jc.2016-3903. J Clin Endocrinol Metab. 2017. PMID: 28201738 Free PMC article.
Lack of MTTP Activity in Pluripotent Stem Cell-Derived Hepatocytes and Cardiomyocytes Abolishes apoB Secretion and Increases Cell Stress.
Liu Y, Conlon DM, Bi X, Slovik KJ, Shi J, Edelstein HI, Millar JS, Javaheri A, Cuchel M, Pashos EE, Iqbal J, Hussain MM, Hegele RA, Yang W, Duncan SA, Rader DJ, Morrisey EE. Liu Y, et al. Among authors: hegele ra. Cell Rep. 2017 May 16;19(7):1456-1466. doi: 10.1016/j.celrep.2017.04.064. Cell Rep. 2017. PMID: 28514664 Free PMC article.
Long-Term Efficacy and Safety of the Microsomal Triglyceride Transfer Protein Inhibitor Lomitapide in Patients With Homozygous Familial Hypercholesterolemia.
Blom DJ, Averna MR, Meagher EA, du Toit Theron H, Sirtori CR, Hegele RA, Shah PK, Gaudet D, Stefanutti C, Vigna GB, Larrey D, Bloedon LT, Foulds P, Rader DJ, Cuchel M. Blom DJ, et al. Among authors: hegele ra. Circulation. 2017 Jul 18;136(3):332-335. doi: 10.1161/CIRCULATIONAHA.117.028208. Circulation. 2017. PMID: 28716835 No abstract available.
Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.
Vlasschaert C, McIntyre AD, Thomson LA, Kennedy BA, Ratko S, Prasad C, Hegele RA. Vlasschaert C, et al. Among authors: hegele ra. J Investig Med High Impact Case Rep. 2021 Jan-Dec;9:23247096211022484. doi: 10.1177/23247096211022484. J Investig Med High Impact Case Rep. 2021. PMID: 34078172 Free PMC article.
936 results