The J. D. mutation in familial hypercholesterolemia: Amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors

Cell

Volumn 45, Issue 1, 1986, Pages 15-24

  Davis, C Geoffrey ^a   Lehrman, Mark A ^a   Russell, David W ^a   Anderson, Richard G W ^a   Brown, Michael S ^a   Goldstein, Joseph L ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; LOW DENSITY LIPOPROTEIN RECEPTOR; RECOMBINANT DNA; TYROSINE;

AMINO ACID SUBSTITUTION; CYTOPLASM; ETIOLOGY; GENETIC ENGINEERING; HEREDITY; HUMAN; HUMAN CELL; HYPERCHOLESTEROLEMIA; PRIORITY JOURNAL;

ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; CELL COMPARTMENTATION; CLONING, MOLECULAR; CYSTEINE; ENDOCYTOSIS; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MUTATION; RECEPTORS, LDL; STRUCTURE-ACTIVITY RELATIONSHIP; TRANSFECTION; TYROSINE;

ANIMALIA; CRICETINAE;

EID: 0022456630     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/0092-8674(86)90533-7     Document Type: Article

References (33)

1. A mutation that impairs the ability of lipoprotein receptors to localise in coated pits on the cell surface of human fibroblasts
2. Visualization of acidic organelles in intact cells by electron microscopy
3. Immunologic cross-reactivity of the LDL receptor from bovine adrenal cortex, human fibroblasts, canine liver and adrenal gland, and rat liver
4. Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia
5. Immunoblot analysis of low density lipoprotein receptors in fibroblasts from subjects with familial hypercholesterolemia
6. Coated pits in action
7. Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoprotein
8. New methods for synthesizing deoxy-oligonucleotides
9. Sterols accelerate degradation of HMG CoA reductase encoded by a constitutively expressed cDNA
10. Deletion of clustered O-linked carbohydrates does not impair function of low density lipoprotein receptor in transfected fibroblasts
11. Genetics of the LDL receptor: evidence that the mutations affecting binding and internalization are allelic
12. Coated pits, coated vesicles, and receptor-mediated endocytosis
13. Receptor-mediated endocytosis of LDL in cultured cells
14. Receptor-mediated endocytosis: concepts emerging from the LDL receptor system
15. Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene
16. Receptor-mediated endocytosis of low density lipoprotein: somatic cell mutants define multiple genes required for expression of surface-receptor activity
17. Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain
18. Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains
19. Exon-Alu recombination deletes 5 kilobases from low density lipoprotein receptor gene, producing null phenotype in familial hypercholesterolemia
20. Lambda Charon vectors (Ch32, 33, 34 and 35) adapted for DNA cloning in recombination-deficient hosts
21. New M13 vectors for cloning
22. A general method for saturation mutagenesis of cloned DNA fragments
23. A cDNA cloning vector that permits expression of cDNA inserts in mammalian cells
24. The presence of cysteine in the cytoplasmic domain of the vesicular stomatitis virus glycoprotein is required for palmitate addition
25. DNA sequencing with chain-terminating inhibitors
26. Synthetic oligodeoxyribonucleotides as probes for nucleic acids and as primers in sequence determination
27. Transformation of mammalian cells to antibiotic resistance with a bacterial gene under control of the SV40 early region promoter
28. The LDL receptor gene: a mosaic of exons shared with different proteins
29. Transformation of mammalian cells with genes from procaryotes and eucaryotes
30. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA
31. Oligonucleotide-directed mutagenesis of DNA fragments cloned into M13 vectors
32. Oligonucleotide-directed mutagenesis: a simple method using two oligonucleotide primers and a single-stranded DNA template