Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.W109S
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GPIHBP1

NM_178172.6:p.W109S

Associated Papers

Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis.

Birrane G et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Mutating a conserved cysteine in GPIHBP1 reduces amounts of GPIHBP1 in capillaries and abolishes LPL binding.

Allan CM et al.

Journal of Lipid Research, 2017

Autoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia.

Beigneux AP et al.

The New England Journal of Medicine, 2017

Monoclonal antibodies that bind to the Ly6 domain of GPIHBP1 abolish the binding of LPL.

Hu X et al.

Journal of Lipid Research, 2017

GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.

Beigneux AP et al.

Circulation Research, 2015

Assessing the role of the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) three-finger domain in binding lipoprotein lipase.

Beigneux AP et al.

The Journal of Biological Chemistry, 2011

GPIHBP1 autoantibodies in a patient with unexplained chylomicronemia.

Hu X et al.

Journal of Clinical Lipidology, 0

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