ArticleThe Journal of clinical investigation1999
Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia.
Article in The Journal of clinical investigation, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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.
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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
15 citing papers in PubMed, 77 citations in OpenAlex.
- An Unbiased Mass Spectrometry Approach Identifies Glypican-3 as an Interactor of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR) in Hepatocellular Carcinoma Cells.The Journal of biological chemistry · 2016Article
- Molecular characterization of proprotein convertase subtilisin/kexin type 9-mediated degradation of the LDLR.Journal of lipid research · 2012Article
- Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.Journal of lipid research · 2011Review
- Functional roles of short sequence motifs in the endocytosis of membrane receptors.Frontiers in bioscience (Landmark edition) · 2009Review
- Effects of APOE, APOB and LDLR variants on serum lipids and lack of association with xanthelasma in individuals from Southeastern Brazil.Genetics and molecular biology · 2009Article
- Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia.The Journal of clinical investigation · 2007Article
- Familial hypercholesterolaemia.The Clinical biochemist. Reviews · 2004Article
- Sorting it out: AP-2 and alternate clathrin adaptors in endocytic cargo selection.The Journal of cell biology · 2003Review
- Monogenic hypercholesterolemia: new insights in pathogenesis and treatment.The Journal of clinical investigation · 2003Review
- Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.Journal of human genetics · 2003Article
- The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
- Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1.The Journal of clinical investigation · 2002Article
- Disabled-2 exhibits the properties of a cargo-selective endocytic clathrin adaptor.The EMBO journal · 2002Article
- Statins in homozygous familial hypercholesterolemia.Current atherosclerosis reports · 2002Review
- Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families.American journal of human genetics · 2001Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is characterized by a raised concentration of LDL in plasma that results in a significantly increased risk of premature atherosclerosis. In FH, impaired removal of LDL from the circulation results from inherited mutations in the LDL receptor gene or, more rarely, in the gene for apo B, the ligand for the LDL receptor. We have identified two unrelated clinically homozygous FH patients whose cells exhibit no measurable degradation of LDL in culture. Extensive analysis of DNA and mRNA revealed no defect in the LDL receptor, and alleles of the LDL receptor or apo B genes do not cosegregate with hypercholesterolemia in these families. FACS((R)) analysis of binding and uptake of fluorescent LDL or anti-LDL receptor antibodies showed that LDL receptors are on the cell surface and bind LDL normally, but fail to be internalized, suggesting that some component of endocytosis through clathrin-coated pits is defective. Internalization of the transferrin receptor occurs normally, suggesting that the defective gene product may interact specifically with the LDL receptor internalization signal. Identification of the defective gene will aid genetic diagnosis of other hypercholesterolemic patients and elucidate the mechanism by which LDL receptors are internalized.
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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.