نتایج جستجو برای: familial chylomicronemia

تعداد نتایج: 56099  

2010
Remco Franssen Stephen G. Young Frank Peelman Jozef Hertecant Jeroen A. Sierts Alinda W. M. Schimmel André Bensadoun Loren G. Fong Geesje M. Dallinga-Thie

Background Recent studies in mice have established that an endothelial cell protein, GPIHBP1, is essential for the lipolytic processing of triglyceride-rich lipoproteins. Methods and Results We report the discovery of a homozygous missense mutation in GPIHBP1 in a young boy with severe chylomicronemia. The mutation, p.C65Y, replaces a conserved cysteine in the GPIHBP1’s Ly6 domain with a tyrosi...

2012
Michael M. Weinstein Christopher N. Goulbourne Brandon S.J. Davies Yiping Tu Richard H. Barnes Steven M. Watkins Ryan Davis Karen Reue Peter Tontonoz Anne P. Beigneux Loren G. Fong Stephen G. Young

Objective—Gpihbp1-deficient (Gpihbp1 / ) mice lack the ability to transport lipoprotein lipase to the capillary lumen, resulting in mislocalization of lipoprotein lipase within tissues, defective lipolysis of triglyceride-rich lipoproteins, and chylomicronemia. We asked whether GPIHBP1 deficiency and mislocalization of catalytically active lipoprotein lipase would alter the composition of trigl...

Journal: :Arteriosclerosis and thrombosis : a journal of vascular biology 1991
R McPherson C J Mann A R Tall M Hogue L Martin R W Milne Y L Marcel

Cholesteryl ester transfer protein (CETP) mediates an important pathway for reverse cholesterol transport. Concentrations of CETP in fasting plasma were measured by radioimmunoassay in two different groups of hyperlipoproteinemic subjects. Plasma CETP concentrations measured by radioimmunoassay correlated closely with cholesterol ester transfer activity in normal plasma (r = 0.86). In the first...

Journal: :Arteriosclerosis, thrombosis, and vascular biology 2012
Michael M Weinstein Christopher N Goulbourne Brandon S J Davies Yiping Tu Richard H Barnes Steven M Watkins Ryan Davis Karen Reue Peter Tontonoz Anne P Beigneux Loren G Fong Stephen G Young

OBJECTIVE Gpihbp1-deficient (Gpihbp1-/-) mice lack the ability to transport lipoprotein lipase to the capillary lumen, resulting in mislocalization of lipoprotein lipase within tissues, defective lipolysis of triglyceride-rich lipoproteins, and chylomicronemia. We asked whether GPIHBP1 deficiency and mislocalization of catalytically active lipoprotein lipase would alter the composition of trigl...

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