Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein
about
The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pitsAMN directs endocytosis of the intrinsic factor-vitamin B(12) receptor cubam by engaging ARH or Dab2The adaptor protein ARH escorts megalin to and through endosomesThe PX-domain protein SNX17 interacts with members of the LDL receptor family and modulates endocytosis of the LDL receptorAutosomal recessive hypercholesterolemia protein interacts with and regulates the cell surface level of Alzheimer's amyloid beta precursor proteinARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic miceThe autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machineryRestoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1Characterization of the adaptor protein ARH expression in the brain and ARH molecular interactionsDisabled-2 exhibits the properties of a cargo-selective endocytic clathrin adaptorDual roles for the Dab2 adaptor protein in embryonic development and kidney transportExogenous plant MIR168a specifically targets mammalian LDLRAP1: evidence of cross-kingdom regulation by microRNALXR regulates cholesterol uptake through Idol-dependent ubiquitination of the LDL receptorMonogenic hypercholesterolemia: new insights in pathogenesis and treatmentMolecular genetics of coronary artery diseaseFamilial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in RussiaThe genetics and screening of familial hypercholesterolaemiaForty Years of Clathrin-coated VesiclesMechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease riskProprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseasesAtomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tailEndocytosis and Physiology: Insights from Disabled-2 Deficient MiceNormal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemiaTargeted disruption of the PDZK1 gene in mice causes tissue-specific depletion of the high density lipoprotein receptor scavenger receptor class B type I and altered lipoprotein metabolismLipoprotein(a) catabolism is regulated by proprotein convertase subtilisin/kexin type 9 through the low density lipoprotein receptorAdaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytesStructural requirements for PCSK9-mediated degradation of the low-density lipoprotein receptorMonogenic dyslipidemias: window on determinants of plasma lipoprotein metabolismUse of targeted exome sequencing as a diagnostic tool for Familial HypercholesterolaemiaMolecular mechanism and physiological functions of clathrin-mediated endocytosisPCSK9 monoclonal antibodies for the primary and secondary prevention of cardiovascular disease.Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.A single common portal for clathrin-mediated endocytosis of distinct cargo governed by cargo-selective adaptors.The endocytic adaptor protein ARH associates with motor and centrosomal proteins and is involved in centrosome assembly and cytokinesis.A genomewide search finds major susceptibility loci for gallbladder disease on chromosome 1 in Mexican Americans.Carboxy-terminal deletion of the HDL receptor reduces receptor levels in liver and steroidogenic tissues, induces hypercholesterolemia, and causes fatal heart disease.Inhibition of hepatic microsomal triglyceride transfer protein - a novel therapeutic option for treatment of homozygous familial hypercholesterolemiaThe impact of rare and low-frequency genetic variants in common disease
P2860
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P2860
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein
description
2001 nî lūn-bûn
@nan
2001 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Autosomal recessive hyperchole ...... e LDL receptor adaptor protein
@ast
Autosomal recessive hyperchole ...... e LDL receptor adaptor protein
@en
Autosomal recessive hyperchole ...... e LDL receptor adaptor protein
@nl
type
label
Autosomal recessive hyperchole ...... e LDL receptor adaptor protein
@ast
Autosomal recessive hyperchole ...... e LDL receptor adaptor protein
@en
Autosomal recessive hyperchole ...... e LDL receptor adaptor protein
@nl
prefLabel
Autosomal recessive hyperchole ...... e LDL receptor adaptor protein
@ast
Autosomal recessive hyperchole ...... e LDL receptor adaptor protein
@en
Autosomal recessive hyperchole ...... e LDL receptor adaptor protein
@nl
P2093
P3181
P356
P1433
P1476
Autosomal recessive hyperchole ...... e LDL receptor adaptor protein
@en
P2093
C K Garcia
P304
P3181
P356
10.1126/SCIENCE.1060458
P407
P50
P577
2001-04-26T00:00:00Z