Genetics of the LDL receptor: Evidence that the mutations affecting binding and internalization are allelic

scientific article published on November 1, 1977

Genetics of the LDL receptor: Evidence that the mutations affecting binding and internalization are allelic is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/0092-8674(77)90263-X
P953full work available at URLhttps://api.elsevier.com/content/article/PII:009286747790263X?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:009286747790263X?httpAccept=text/xml
P698PubMed publication ID200368

P50authorJoseph L. GoldsteinQ271424
Neil J StoneQ95373132
P2093author name stringM S Brown
M. S. Brown
N J Stone
P2860cites workProtein measurement with the Folin phenol reagentQ20900776
Receptor-Mediated Control of Cholesterol MetabolismQ28297251
Role of the coated endocytic vesicle in the uptake of receptor-bound low density lipoprotein in human fibroblastsQ33396990
Regulation of the activity of the low density lipoprotein receptor in human fibroblastsQ34158311
Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man.Q34207867
Release of low density lipoprotein from its cell surface receptor by sulfated glycosaminoglycansQ34728964
Heterozygous familial hypercholesterolemia: Failure of normal allele to compensate for mutant allele at a regulated genetic locusQ34780455
Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoproteinQ34875721
Localization of low density lipoprotein receptors on plasma membrane of normal human fibroblasts and their absence in cells from a familial hypercholesterolemia homozygoteQ35011432
Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptorQ35073833
Esterification of low density lipoprotein cholesterol in human fibroblasts and its absence in homozygous familial hypercholesterolemiaQ35114794
125I-labeled human epidermal growth factor. Binding, internalization, and degradation in human fibroblastsQ36198091
The Low-Density Lipoprotein Pathway and its Relation to AtherosclerosisQ37605132
Type III Hyperlipoproteinemia: An Analysis of Two Contemporary DefinitionsQ39920195
Familial hypercholesterolemia: A genetic defect in the low-density lipoprotein receptorQ39986553
Lipoprotein uptake and metabolism by rat aortic smooth muscle cells in tissue cultureQ68689544
Cholesterol synthesis by cultured fibroblasts: decreased feedback inhibition in familial hypercholesterolemiaQ69817847
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectalleleQ80726
P304page(s)629-641
P577publication date1977-11-01
P1433published inCellQ655814
P1476titleGenetics of the LDL receptor: evidence that the mutations affecting binding and internalization are allelic
Genetics of the LDL receptor: Evidence that the mutations affecting binding and internalization are allelic
P478volume12

Reverse relations

cites work (P2860)
Q7019301619 Receptor-mediated endocytosis of low-density lipoprotein in cultured cells
Q34100772A mutation that impairs the ability of lipoprotein receptors to localise in coated pits on the cell surface of human fibroblasts
Q74464709Activation of monocytes in vivo causes intracellular accumulation of lipoprotein-derived lipids and marked hypocholesterolemia--a possible pathogenesis of necrobiotic xanthogranuloma
Q35037425Alternative hypotheses for the role of promotion in chemical carcinogenesis
Q37341069Amyloid protein SAA is an apoprotein of mouse plasma high density lipoprotein
Q39665119Cell surface-associated lysosomal enzymes in cultured human skin fibroblasts
Q40679983Chinese hamster cell mutant resistant to ML236B (Compactin) is defective in endocytosis of low-density lipo-protein
Q70580818Chinese hamster cell mutants with defective endocytosis of low-density lipoprotein contain altered fatty acid composition in the membrane
Q28625700Coated pits, coated vesicles, and receptor-mediated endocytosis
Q40690436Cultured human-cell-based bioassay for environmental risk management
Q36209200Diffusion of low density lipoprotein-receptor complex on human fibroblasts
Q44756972Diseases determined by major genes
Q34191561Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia
Q34685397Effect of CS-514, an inhibitor of 3-hydroxy-3-methylglutaryl coenzyme A reductase, on lipoprotein and apolipoprotein in plasma of hypercholesterolemic diabetics
Q72926566Effect of platelet-derived and endothelial cell-derived growth factors on the low density lipoprotein receptor pathway in cultured human fibroblasts
Q36999320Effects of ML-236B (Compactin) on Sterol Synthesis and Low Density Lipoprotein Receptor Activities in Fibroblasts of Patients with Homozygous Familial Hypercholesterolemia
Q40169917Effects of cytochalasin B on low-density lipoprotein metabolism by cultured human fibroblasts
Q36212383Electric field-induced redistribution and postfield relaxation of low density lipoprotein receptors on cultured human fibroblasts
Q43823013Evidence that recycling of low density lipoprotein receptors does not depend on delivery of receptors to lysosomes
Q35607500Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia
Q70193279Expression and regulation of human low-density lipoprotein receptors in Chinese hamster ovary cells
Q36986951Familial hypercholesterolemia. Evidence for a newly recognized mutation determining increased fibroblast receptor affinity but decreased capacity for low density lipoprotein in two siblings
Q33848081Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype
Q72912620Fluorescence Visualization of Receptor-Bound Low Density Lipoprotein in Human Fibroblasts
Q36205216Fluorescent low density lipoprotein for observation of dynamics of individual receptor complexes on cultured human fibroblasts
Q28297694Functional dissection of Reelin signaling by site-directed disruption of Disabled-1 adaptor binding to apolipoprotein E receptor 2: distinct roles in development and synaptic plasticity
Q35753332Genetically defined hyperlipidemia
Q37051912Genetics of the low density lipoprotein receptor. Diminished receptor activity in lymphocytes from heterozygotes with familial hypercholesterolemia
Q67254019Glycosylation of LDL decreases its ability to interact with high-affinity receptors of human fibroblasts in vitro and decreases its clearance from rabbit plasma in vivo
Q35467343Homozygous familial hypercholesterolemia mutant with a defect in internalization of low density lipoprotein
Q68368985Human low density lipoprotein receptor expressed in Xenopus oocytes. Conserved signals for O-linked glycosylation and receptor-mediated endocytosis
Q42112172Identification of a VLDL-induced, FDNPVY-independent internalization mechanism for the LDLR.
Q72959545Immunoblot analysis of low density lipoprotein receptors in fibroblasts from subjects with familial hypercholesterolemia
Q36204601Inefficient internalization of receptor-bound low density lipoprotein in human carcinoma A-431 cells
Q34195375Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain
Q28569450Kinetic aspects of hemoglobin.haptoglobin-receptor interaction in rat liver plasma membranes, isolated liver cells, and liver cells in primary culture
Q38016475LDL apheresis and inflammation--implications for atherosclerosis
Q38313680Lipoprotein receptors in extraembryonic tissues of the chicken.
Q38517043Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6) Is a Novel Nutritional Therapeutic Target for Hyperlipidemia, Non-Alcoholic Fatty Liver Disease, and Atherosclerosis
Q24608930Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasis
Q37040813Metabolic studies in familial hypercholesterolemia. Evidence for a gene-dosage effect in vivo
Q36145238Molecular characterization of proprotein convertase subtilisin/kexin type 9-mediated degradation of the LDLR.
Q34257677Molecular counting of low-density lipoprotein particles as individuals and small clusters on cell surfaces
Q41925621Morphological changes in cultured myotubes treated with agents that interfere with lysosomal function
Q26269836Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains
Q89179213Non-coding RNAs in lipid metabolism
Q36744120Quantitative fluorescence imaging reveals point of release for lipoproteins during LDLR-dependent uptake
Q37330623Rate and equilibrium constants for binding of apo-E HDL c (a cholesterol-induced lipoprotein) and low density lipoproteins to human fibroblasts: Evidence for multiple receptor binding of apo-E HDL c
Q24596157Receptor-mediated endocytosis: insights from the lipoprotein receptor system
Q28322988Reconstituted low density lipoprotein: A vehicle for the delivery of hydrophobic fluorescent probes to cells
Q36363355Role of FQQI motif in the internalization, trafficking, and signaling of guanylyl-cyclase/natriuretic peptide receptor-A in cultured murine mesangial cells
Q36222540Role of the human transferrin receptor cytoplasmic domain in endocytosis: localization of a specific signal sequence for internalization
Q70178672Scavenger lipoprotein receptors are more effective in ligand internalization than low density lipoprotein receptors in human monocyte-macrophages
Q36369270Targeted killing of cultured cells by receptor-dependent photosensitization
Q34196707The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors
Q40128908The LDL Receptor Defect in Familial Hypercholesterolemia: Implications for Pathogenesis and Therapy
Q24658039The LDL receptor
Q41014738The two mannose 6-phosphate binding sites of the insulin-like growth factor-II/mannose 6-phosphate receptor display different ligand binding properties
Q69512031The use of metabolic inhibitors to compare the excision repair of pyrimidine dimers and nondimer DNA damages in human skin fibroblasts exposed to 254-nm and sunlamp-produced greater than 310-nm ultraviolet radiation
Q40152381Turnover of plasma membrane glycoproteins and glycolipids of hepatoma tissue culture cells
Q43484843Use of metabolic inhibitors to investigate the excision repair of pyrimidine dimers and non-dimer DNA damages induced in human and ICR 2A frog cells by solar ultraviolet radiation