Deletion of GPIHBP1 causing severe chylomicronemia - Wikidata - wikimedia - TriplyDB

Deletion of GPIHBP1 causing severe chylomicronemia

Deletion of GPIHBP1 causing severe chylomicronemia

http://www.wikidata.org/entity/Q35871880

about

Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 and the intravascular processing of triglyceride-rich lipoproteins Influence of apolipoprotein A-V on the metabolic fate of triacylglycerol Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.Identification and quantitative mRNA analysis of a novel splice variant of GPIHBP1 in dairy cattle.Evidence for Two Distinct Binding Sites for Lipoprotein Lipase on Glycosylphosphatidylinositol-anchored High Density Lipoprotein-binding Protein 1 (GPIHBP1).The acidic domain of the endothelial membrane protein GPIHBP1 stabilizes lipoprotein lipase activity by preventing unfolding of its catalytic domain.Biochemistry and pathophysiology of intravascular and intracellular lipolysis.Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia Chylomicronaemia--current diagnosis and future therapies.Monoclonal antibodies that bind to the Ly6 domain of GPIHBP1 abolish the binding of LPL.Mobility of "HSPG-bound" LPL explains how LPL is able to reach GPIHBP1 on capillaries.An LPL-specific monoclonal antibody, 88B8, that abolishes the binding of LPL to GPIHBP1.GPIHBP1 and Plasma Triglyceride Metabolism.A 1-month-old infant with chylomicronemia due to GPIHBP1 gene mutation treated by plasmapheresis.Angiopoietin-like 4 Modifies the Interactions between Lipoprotein Lipase and Its Endothelial Cell Transporter GPIHBP1.GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.Autoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia.Lipoprotein lipase reaches the capillary lumen in chickens despite an apparent absence of GPIHBP1.GPIHBP1: two get tangled.Mutating a conserved cysteine in GPIHBP1 reduces amounts of GPIHBP1 in capillaries and abolishes LPL binding.GPIHBP1 autoantibodies in a patient with unexplained chylomicronemia.An enzyme-linked immunosorbent assay for measuring GPIHBP1 levels in human plasma or serum.

P2860

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P2860

Deletion of GPIHBP1 causing severe chylomicronemia

http://www.wikidata.org/entity/Q35871880

description

2011 nî lūn-bûn

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

@zh-tw

2011年论文

@wuu

2011年论文

@zh

2011年论文

@zh-cn

name

Deletion of GPIHBP1 causing severe chylomicronemia

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Deletion of GPIHBP1 causing severe chylomicronemia

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type

label

Deletion of GPIHBP1 causing severe chylomicronemia

@ast

Deletion of GPIHBP1 causing severe chylomicronemia

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prefLabel

Deletion of GPIHBP1 causing severe chylomicronemia

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Deletion of GPIHBP1 causing severe chylomicronemia

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S10545-011-9406-5

P1433

Journal of Inherited Metabolic Disease

P1476

Deletion of GPIHBP1 causing severe chylomicronemia

@en

P2093

Abhimanyu Garg

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Helen H Hobbs

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Jonathan C Cohen

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Jonathan J Rios

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Juan Jasso

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Natalie Hauser

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Savitha Shastry

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P2860

Fine-scale structural variation of the human genome

Mapping and sequencing of structural variation from eight human genomes

Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects

Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution

Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase

GPIHBP1 is responsible for the entry of lipoprotein lipase into capillaries

Mapping copy number variation by population-scale genome sequencing

Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons

Crystal structure of CD59: implications for molecular recognition of the complement proteins C8 and C9 in the membrane-attack complex

Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia

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531-540

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scholarly article

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10.1007/S10545-011-9406-5

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3

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35

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André Bensadoun

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2011-10-19T00:00:00Z

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51726774

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