ArticleThe Journal of clinical investigation2002
Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1.
Article in The Journal of clinical investigation, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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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Who cites it
20 citing papers in PubMed, 75 citations in OpenAlex.
- First LDLRAP1 and Recurrent LDLR Mutations in Tunisian Families With Familial Hypercholesterolemia.Journal of cellular and molecular medicine · 2026Article
- ARH Family of ADP-Ribose-Acceptor Hydrolases.Cells · 2022Review
- Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.International journal of molecular sciences · 2022Article
- A case of autosomal recessive hypercholesterolemia with a novel mutation in theClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2021Article
- Lipoprotein metabolism in familial hypercholesterolemia.Journal of lipid research · 2021Review
- Extension of the yeast metabolic model to include iron metabolism and its use to estimate global levels of iron-recruiting enzyme abundance from cofactor requirements.Biotechnology and bioengineering · 2019Article
- Subcellular Trafficking of Mammalian Lysosomal Proteins: An Extended View.International journal of molecular sciences · 2016Review
- A phosphotyrosine switch for cargo sequestration at clathrin-coated buds.The Journal of biological chemistry · 2014Article
- S-nitrosylation of ARH is required for LDL uptake by the LDL receptor.Journal of lipid research · 2013Article
- Caenorhabditis elegans reveals a FxNPxY-independent low-density lipoprotein receptor internalization mechanism mediated by epsin1.Molecular biology of the cell · 2013Article
- Myosin VI and Associated Proteins Are Expressed in Human Macrophages but Do Not Play a Role in Foam Cell Formation in THP-1 Cells.International journal of vascular medicine · 2013Article
- 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
- Coronary intraplaque hemorrhage evokes a novel atheroprotective macrophage phenotype.The American journal of pathology · 2009Article
- The AP-2 adaptor beta2 appendage scaffolds alternate cargo endocytosis.Molecular biology of the cell · 2008Article
- A single common portal for clathrin-mediated endocytosis of distinct cargo governed by cargo-selective adaptors.Molecular biology of the cell · 2006Article
- A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.Human genetics · 2005Article
- The adaptor protein ARH escorts megalin to and through endosomes.Molecular biology of the cell · 2003Article
- 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
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
Abstract
Familial hypercholesterolemia is an autosomal dominant disorder with a gene-dosage effect that is usually caused by mutations in the LDL receptor gene that disrupt normal clearance of LDL. In the homozygous form, it results in a distinctive clinical phenotype, characterized by inherited hypercholesterolemia, cholesterol deposition in tendons, and severe premature coronary disease. We described previously two families with autosomal recessive hypercholesterolemia that is not due to mutations in the LDL receptor gene but is characterized by defective LDL receptor-dependent internalization and degradation of LDL by transformed lymphocytes from the patients. We mapped the defective gene to chromosome 1p36 and now show that the disorder in these and a third English family is due to novel mutations in ARH1, a newly identified gene encoding an adaptor-like protein. Cultured skin fibroblasts from affected individuals exhibit normal LDL receptor activity, but their monocyte-derived macrophages are similar to transformed lymphocytes, being unable to internalize and degrade LDL. Retroviral expression of normal human ARH1 restores LDL receptor internalization in transformed lymphocytes from an affected individual, as demonstrated by uptake and degradation of (125)I-labeled LDL and confocal microscopy of cells labeled with anti-LDL-receptor Ab.
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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.