The J. D. mutation in familial hypercholesterolemia: Amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors
- 1 April 1986
- Vol. 45 (1), 15-24
- https://doi.org/10.1016/0092-8674(86)90533-7
Abstract
No abstract availableThis publication has 33 references indexed in Scilit:
- Receptor-Mediated Endocytosis: Concepts Emerging from the LDL Receptor SystemAnnual Review of Cell Biology, 1985
- Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domainCell, 1985
- Sterols accelerate degradation of hamster 3-hydroxy-3-methylglutaryl coenzyme A reductase encoded by a constitutively expressed cDNA.Molecular and Cellular Biology, 1985
- Mutation in LDL Receptor: Alu-Alu Recombination Deletes Exons Encoding Transmembrane and Cytoplasmic DomainsScience, 1985
- Coated pits in actionCell, 1984
- [19] Receptor-mediated endocytosis of low-density lipoprotein in cultured cellsMethods in Enzymology, 1983
- Coated pits, coated vesicles, and receptor-mediated endocytosisNature, 1979
- A mutation that impairs the ability of lipoprotein receptors to localise in coated pits on the cell surface of human fibroblastsNature, 1977
- Genetics of the LDL receptor: Evidence that the mutations affecting binding and internalization are allelicCell, 1977
- Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoproteinCell, 1976