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hypercholesterolemia
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APOB
Reliability of low-density lipoprotein cholesterol, non-high-density lipoprotein cholesterol, and apolipoprotein B measurement
Opening a new lipid "apo-thecary": incorporating apolipoproteins as potential risk factors and treatment targets to reduce cardiovascular risk
Atherosclerosis: Evolving Vascular Biology and Clinical Implications
Transgenic mice that overexpress mouse apolipoprotein B. Evidence that the DNA sequences controlling intestinal expression of the apolipoprotein B gene are distant from the structural gene
Knockout of the mouse apolipoprotein B gene results in embryonic lethality in homozygotes and protection against diet-induced hypercholesterolemia in heterozygotes
Apolipoprotein B is an innate barrier against invasive Staphylococcus aureus infection
LDLR
Integration of endocytosis and signal transduction by lipoprotein receptors
Low-density lipoprotein receptor structure and folding
The LDL receptor gene: a mosaic of exons shared with different proteins
Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease
PCSK9
Mechanistic implications for LDL receptor degradation from the PCSK9/LDLR structure at neutral pH
The crystal structure of PCSK9: a regulator of plasma LDL-cholesterol
Structural and biochemical characterization of the wild type PCSK9-EGF(AB) complex and natural familial hypercholesterolemia mutants
Molecular basis for LDL receptor recognition by PCSK9
PCSK9 and LDLR degradation: regulatory mechanisms in circulation and in cells
Targeting PCSK9 for hypercholesterolemia
Proprotein convertase subtilisin/kexin type 9 inhibition: a new therapeutic mechanism for reducing cardiovascular disease risk
Proprotein convertase subtilisin kexin type 9 null mice are protected from postprandial triglyceridemia
Proprotein convertase subtilisin kexin type 9 promotes intestinal overproduction of triglyceride-rich apolipoprotein B lipoproteins through both low-density lipoprotein receptor-dependent and -independent mechanisms
The hypercholesterolemia-risk gene SORT1 facilitates PCSK9 secretion
Molecular and cellular function of the proprotein convertase subtilisin/kexin type 9 (PCSK9)
LDLRAP1
Towards a proteome-scale map of the human protein-protein interaction network
ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2
The adaptor protein ARH escorts megalin to and through endosomes
ABCA1
ABC1: the gene for Tangier disease and beyond
ABCA1-mediated transport of cellular cholesterol and phospholipids to HDL apolipoproteins
Increased leukocyte ABCA1 gene expression in post-menopausal women on hormone replacement therapy
EPHX2
Genetic variation in soluble epoxide hydrolase (EPHX2) and risk of coronary heart disease: The Atherosclerosis Risk in Communities (ARIC) study
Novel metabolic pathways for linoleic and arachidonic acid metabolism
Gerry Brooks and epoxide hydrolases: four decades to a pharmaceutical
APOA2
Distribution patterns of apolipoproteins A1, A2, and B in the wall of atherosclerotic vessels
A splice-junction mutation responsible for familial apolipoprotein A-II deficiency
Extracellular processing of proapolipoprotein A-II in Hep G2 cell cultures is mediated by a 54-kDa protease immunologically related to cathepsin B
GHR
Evidence for multiple species of Sunda colugo
ITIH4
The H4P heavy chain of inter-alpha-inhibitor family largely differs in the structure and synthesis of its prolin-rich region from rat to human
Cancer Gene Census
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Definition
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Pathways
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srebp control of lipid synthesis
species not specified
one gene
Clinical Trials
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External
Russian Familial Hypercholesterolemia Registry (RuFH)