ArticleProceedings of the National Academy of Sciences of the United States of America1987
Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1987. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
102 citing papers in PubMed, 4 syntheses or guidelines pooled it, 481 citations in OpenAlex.
- PCSK9 monoclonal antibodies for the primary and secondary prevention of cardiovascular disease.The Cochrane database of systematic reviews · 2020 · on this mapPooled it
- PCSK9 monoclonal antibodies for the primary and secondary prevention of cardiovascular disease.The Cochrane database of systematic reviews · 2017 · on this mapPooled it
- Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis.Circulation. Cardiovascular genetics · 2016Pooled it
- Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.Arteriosclerosis, thrombosis, and vascular biology · 2013Pooled it
- Century of Progress on the Structure of APOB-100 in Atherogenic Lipoproteins.Circulation research · 2026Review
- Genetic Testing for Children with Familial Hypercholesterolemia.Journal of atherosclerosis and thrombosis · 2026Review
- A Novel Mutation of the FBN1 Gene in a Chinese Family With Marfan Syndrome and Unanticipated Discoveries of Family Members.Genetics research · 2026Article
- Opportunities and Challenges in Translating Genomics into Population Health Impact: Lessons from Familial Hypercholesterolemia.Public health genomics · 2026Review
- Genetic Determinants of the Familial Hypercholesterolaemia Phenotype.Annals of human genetics · 2025Review
- Review
- Structural dynamics of LDL receptor interactions with E498A and R499G variants of PCSK9.Journal of molecular modeling · 2025Article
- A Scoping Review of Electronic Health Records-Based Screening Algorithms for Familial Hypercholesterolemia.JACC. Advances · 2024Article
- Predictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies.Current atherosclerosis reports · 2023Review
- Genetic Testing for Familial Hypercholesterolemia in Clinical Practice.Current atherosclerosis reports · 2023Review
- Identification and Functional Analysis ofInternational journal of molecular sciences · 2023Article
- Lipoprotein(a) levels in children with suspected familial hypercholesterolaemia: a cross-sectional study.European heart journal · 2023Article
- Genetic and molecular architecture of familial hypercholesterolemia.Journal of internal medicine · 2023Review
- Gene transfer and genome editing for familial hypercholesterolemia.Frontiers in molecular medicine · 2023Review
- Chasing LDL cholesterol to the bottom - PCSK9 in perspective.Nature cardiovascular research · 2022Review
- Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.Journal of atherosclerosis and thrombosis · 2022Article
42 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Previous in vivo turnover studies suggested that retarded clearance of low density lipoproteins (LDL) from the plasma of some hypercholesterolemic patients is due to LDL with defective receptor binding. The present study examined this postulate directly by receptor binding experiments. The LDL from a hypercholesterolemic patient (G.R.) displayed a reduced ability to bind to the LDL receptors on normal human fibroblasts. The G.R. LDL possessed 32% of normal receptor binding activity (approximately equal to 9.3 micrograms of G.R. LDL per ml were required to displace 50% of 125I-labeled normal LDL, vs. approximately equal to 3.0 micrograms of normal LDL per ml). Likewise, the G.R. LDL were much less effective than normal LDL in competing with 125I-labeled normal LDL for cellular uptake and degradation and in stimulating intracellular cholesteryl ester synthesis. The defect in LDL binding appears to be due to a genetic abnormality of apolipoprotein B-100: two brothers of the proband possess LDL defective in receptor binding, whereas a third brother and the proband's son have normally binding LDL. Further, the defect in receptor binding does not appear to be associated with an abnormal lipid composition or structure of the LDL: the chemical and physical properties of the particles were normal, and partial delipidation of the LDL did not alter receptor binding activity. Normal and abnormal LDL subpopulations were partially separated from plasma of two subjects by density-gradient ultracentrifugation, a finding consistent with the presence of a normal and a mutant allele. The affected family members appear to be heterozygous for this disorder, which has been designated familial defective apolipoprotein B-100. These studies indicate that the defective receptor binding results in inefficient clearance of LDL and the hypercholesterolemia observed in these patients.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.