Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain.

PubWeight™: 3.13‹?› | Rank: Top 1%

🔗 View Article (PMID 3924410)

Published in Cell on July 01, 1985

Authors

M A Lehrman, J L Goldstein, M S Brown, D W Russell, W J Schneider

Articles citing this

Microinjected antibodies against the cytoplasmic domain of vesicular stomatitis virus glycoprotein block its transport to the cell surface. EMBO J (1986) 5.60

Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Natl Acad Sci U S A (1985) 5.33

The LDL receptor. Arterioscler Thromb Vasc Biol (2009) 3.78

Allosteric regulation of the epidermal growth factor receptor kinase. J Cell Biol (1986) 3.78

Role of the human transferrin receptor cytoplasmic domain in endocytosis: localization of a specific signal sequence for internalization. J Cell Biol (1990) 3.24

Differential effects of mutations in three domains on folding, quaternary structure, and intracellular transport of vesicular stomatitis virus G protein. J Cell Biol (1988) 3.10

A specific transmembrane domain of a coronavirus E1 glycoprotein is required for its retention in the Golgi region. J Cell Biol (1987) 2.97

Nonsense mutations in the human beta-globin gene affect mRNA metabolism. Proc Natl Acad Sci U S A (1988) 2.88

Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit. Science (1986) 2.76

Receptor-mediated endocytosis. Biochem J (1985) 2.73

Accumulation of membrane glycoproteins in lysosomes requires a tyrosine residue at a particular position in the cytoplasmic tail. J Cell Biol (1990) 2.57

Mutations in the cytoplasmic domain of EGF receptor affect EGF binding and receptor internalization. EMBO J (1986) 2.38

Heterologous transmembrane and cytoplasmic domains direct functional chimeric influenza virus hemagglutinins into the endocytic pathway. J Cell Biol (1986) 2.37

Characteristics of the tyrosine recognition signal for internalization of transmembrane surface glycoproteins. J Cell Biol (1990) 2.20

Endocytosis and recycling of varicella-zoster virus Fc receptor glycoprotein gE: internalization mediated by a YXXL motif in the cytoplasmic tail. J Virol (1997) 2.14

Human transferrin receptor internalization is partially dependent upon an aromatic amino acid on the cytoplasmic domain. Cell Regul (1990) 2.09

Reconstitution of vesicle fusions occurring in endocytosis with a cell-free system. EMBO J (1986) 2.06

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia. Proc Natl Acad Sci U S A (1986) 2.04

Analysis of progressive deletions of the transmembrane and cytoplasmic domains of influenza hemagglutinin. J Cell Biol (1986) 1.94

A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction. Proc Natl Acad Sci U S A (1990) 1.90

Cytoplasmic domains of cellular and viral integral membrane proteins substitute for the cytoplasmic domain of the vesicular stomatitis virus glycoprotein in transport to the plasma membrane. J Cell Biol (1986) 1.88

Purification and properties of a new clathrin assembly protein. EMBO J (1986) 1.83

Polymorphic DNA haplotypes at the LDL receptor locus. Am J Hum Genet (1989) 1.82

Endocytosis and recycling of the T3-T cell receptor complex. The role of T3 phosphorylation. J Exp Med (1987) 1.80

Potassium-dependent assembly of coated pits: new coated pits form as planar clathrin lattices. J Cell Biol (1986) 1.77

Functional domains of the poliovirus receptor. Proc Natl Acad Sci U S A (1991) 1.77

Endocytosis and signaling: cell logistics shape the eukaryotic cell plan. Physiol Rev (2012) 1.61

Introduction of UAG, UAA, and UGA nonsense mutations at a specific site in the Escherichia coli chloramphenicol acetyltransferase gene: use in measurement of amber, ochre, and opal suppression in mammalian cells. Mol Cell Biol (1986) 1.60

In vitro binding of the asialoglycoprotein receptor to the beta adaptin of plasma membrane coated vesicles. EMBO J (1991) 1.60

Tissue-specific sorting of the human LDL receptor in polarized epithelia of transgenic mice. J Cell Biol (1990) 1.55

Effects of mutations in three domains of the vesicular stomatitis viral glycoprotein on its lateral diffusion in the plasma membrane. J Cell Biol (1987) 1.53

Biosynthesis and intracellular sorting of growth hormone-viral envelope glycoprotein hybrids. J Cell Biol (1985) 1.42

The pathway and targeting signal for delivery of the integral membrane glycoprotein LEP100 to lysosomes. J Cell Biol (1992) 1.36

The adaptor protein AP-3 is required for CD1d-mediated antigen presentation of glycosphingolipids and development of Valpha14i NKT cells. J Exp Med (2003) 1.31

Alteration of the cytoplasmic domain of the membrane-spanning glycoprotein p62 of Semliki Forest virus does not affect its polar distribution in established lines of Madin-Darby canine kidney cells. J Cell Biol (1986) 1.22

Unusual forms of low density lipoprotein receptors in hamster cell mutants with defects in the receptor structural gene. J Cell Biol (1986) 1.21

Endocytosis of the ASGP receptor H1 is reduced by mutation of tyrosine-5 but still occurs via coated pits. J Cell Biol (1991) 1.17

The carboxyl-terminal valine residues of proTGF alpha are required for its efficient maturation and intracellular routing. Mol Biol Cell (1997) 1.17

Evidence from lateral mobility studies for dynamic interactions of a mutant influenza hemagglutinin with coated pits. J Cell Biol (1991) 1.14

Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. J Med Genet (1992) 1.13

The insulin receptor juxtamembrane region contains two independent tyrosine/beta-turn internalization signals. J Cell Biol (1992) 1.13

Receptor-mediated endocytosis. J Clin Invest (1986) 1.11

Cell surface transport, oligomerization, and endocytosis of chimeric type II glycoproteins: role of cytoplasmic and anchor domains. Mol Cell Biol (1991) 1.09

Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions. J Clin Invest (1988) 1.08

Identification of deletions in the human low density lipoprotein receptor gene. J Med Genet (1987) 1.08

The paramyxovirus simian virus 5 hemagglutinin-neuraminidase glycoprotein, but not the fusion glycoprotein, is internalized via coated pits and enters the endocytic pathway. Mol Biol Cell (1996) 1.08

Nonpolarized secretion of truncated forms of the influenza hemagglutinin and the vesicular stomatitus virus G protein from MDCK cells. Proc Natl Acad Sci U S A (1987) 1.07

Transport to the cell surface of a peptide sequence attached to the truncated C terminus of an N-terminally anchored integral membrane protein. Mol Cell Biol (1988) 1.05

The epidermal growth factor homology domain of the LDL receptor drives lipoprotein release through an allosteric mechanism involving H190, H562, and H586. J Biol Chem (2008) 1.04

COOH-terminal signals mediate the trafficking of a peptide processing enzyme in endocrine cells. J Cell Biol (1993) 1.03

Hepatitis C Virus entry: the early steps in the viral replication cycle. Virol J (2009) 1.01

Alternative protein products with different carboxyl termini from a single class I gene, H-2Kb. Proc Natl Acad Sci U S A (1986) 1.00

The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland. J Clin Invest (1992) 1.00

Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype. J Clin Invest (1989) 1.00

Insulin receptors internalize by a rapid, saturable pathway requiring receptor autophosphorylation and an intact juxtamembrane region. J Cell Biol (1991) 0.98

Isolation and sequence of a cDNA clone encoding the 31-kDa subunit of bovine kidney vacuolar H+-ATPase. Proc Natl Acad Sci U S A (1988) 0.97

The role of calcium in lipoprotein release by the low-density lipoprotein receptor. Biochemistry (2009) 0.94

Endocytosis of the class I major histocompatibility antigen via a phorbol myristate acetate-inducible pathway is a cell-specific phenomenon and requires the cytoplasmic domain. J Cell Biol (1989) 0.94

Identification of a VLDL-induced, FDNPVY-independent internalization mechanism for the LDLR. EMBO J (2007) 0.93

Software and database for the analysis of mutations in the human LDL receptor gene. Nucleic Acids Res (1997) 0.92

Effects of altered cytoplasmic domains on transport of the vesicular stomatitis virus glycoprotein are transferable to other proteins. Mol Cell Biol (1988) 0.90

Cytoplasmic domain affects membrane expression and function of an Ia molecule. Proc Natl Acad Sci U S A (1988) 0.89

Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail. Proc Natl Acad Sci U S A (2012) 0.86

A methodology for multivariate phenotype-based genome-wide association studies to mine pleiotropic genes. BMC Syst Biol (2011) 0.85

Domain swapping reveals that low density lipoprotein (LDL) type A repeat order affects ligand binding to the LDL receptor. J Biol Chem (2009) 0.83

New liver cell mutants defective in the endocytic pathway. Biochim Biophys Acta (2007) 0.79

Four DNA polymorphisms in the LDL receptor gene: their genetic relationship and use in the study of variation at the LDL receptor locus. J Med Genet (1988) 0.79

Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment. PLoS One (2014) 0.78

The rate of internalization of different receptor-ligand complexes in alveolar macrophages is receptor-specific. Biochem J (1990) 0.78

The use of recombinant DNA techniques for the diagnosis of familial hypercholesterolaemia. J Inherit Metab Dis (1988) 0.75

Articles by these authors

Gastrointestinal toxicity with celecoxib vs nonsteroidal anti-inflammatory drugs for osteoarthritis and rheumatoid arthritis: the CLASS study: A randomized controlled trial. Celecoxib Long-term Arthritis Safety Study. JAMA (2000) 20.35

A receptor-mediated pathway for cholesterol homeostasis. Science (1986) 19.28

Regulation of the mevalonate pathway. Nature (1990) 18.25

The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor. Cell (1997) 17.78

Coated pits, coated vesicles, and receptor-mediated endocytosis. Nature (1979) 17.18

The low-density lipoprotein pathway and its relation to atherosclerosis. Annu Rev Biochem (1977) 13.34

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell (1984) 12.54

Receptor-mediated endocytosis: concepts emerging from the LDL receptor system. Annu Rev Cell Biol (1985) 11.53

Binding site on macrophages that mediates uptake and degradation of acetylated low density lipoprotein, producing massive cholesterol deposition. Proc Natl Acad Sci U S A (1979) 11.19

Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme. J Biol Chem (1989) 11.06

Receptor-mediated endocytosis of low-density lipoprotein in cultured cells. Methods Enzymol (1983) 10.95

Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery. J Clin Invest (1993) 9.56

ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs. Mol Cell (2000) 9.13

Regulation of mouse sterol regulatory element-binding protein-1c gene (SREBP-1c) by oxysterol receptors, LXRalpha and LXRbeta. Genes Dev (2000) 9.09

Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J Biol Chem (1974) 9.02

Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells. Genes Dev (1997) 8.51

Regulated intramembrane proteolysis: a control mechanism conserved from bacteria to humans. Cell (2000) 8.29

Overproduction of cholesterol and fatty acids causes massive liver enlargement in transgenic mice expressing truncated SREBP-1a. J Clin Invest (1996) 7.93

Role of the coated endocytic vesicle in the uptake of receptor-bound low density lipoprotein in human fibroblasts. Cell (1977) 7.74

Lipoprotein metabolism in the macrophage: implications for cholesterol deposition in atherosclerosis. Annu Rev Biochem (1983) 7.70

HMG CoA reductase: a negatively regulated gene with unusual promoter and 5' untranslated regions. Cell (1984) 7.66

A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood. Proc Natl Acad Sci U S A (1999) 7.48

SREBP-1, a membrane-bound transcription factor released by sterol-regulated proteolysis. Cell (1994) 7.10

SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene. Cell (1993) 6.95

Multivalent feedback regulation of HMG CoA reductase, a control mechanism coordinating isoprenoid synthesis and cell growth. J Lipid Res (1980) 6.50

Degradation of cationized low density lipoprotein and regulation of cholesterol metabolism in homozygous familial hypercholesterolemia fibroblasts. Proc Natl Acad Sci U S A (1976) 6.38

Differential expression of exons 1a and 1c in mRNAs for sterol regulatory element binding protein-1 in human and mouse organs and cultured cells. J Clin Invest (1997) 6.18

Isoform 1c of sterol regulatory element binding protein is less active than isoform 1a in livers of transgenic mice and in cultured cells. J Clin Invest (1997) 6.16

Recycling receptors: the round-trip itinerary of migrant membrane proteins. Cell (1983) 5.99

Decreased IRS-2 and increased SREBP-1c lead to mixed insulin resistance and sensitivity in livers of lipodystrophic and ob/ob mice. Mol Cell (2000) 5.92

NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor. J Biol Chem (1990) 5.91

Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest (1973) 5.87

Insulin selectively increases SREBP-1c mRNA in the livers of rats with streptozotocin-induced diabetes. Proc Natl Acad Sci U S A (1999) 5.81

Monensin interrupts the recycling of low density lipoprotein receptors in human fibroblasts. Cell (1981) 5.59

Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy. Nature (1999) 5.51

The LDL receptor gene: a mosaic of exons shared with different proteins. Science (1985) 5.49

Release of low density lipoprotein from its cell surface receptor by sulfated glycosaminoglycans. Cell (1976) 5.33

Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Natl Acad Sci U S A (1985) 5.33

Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity. Proc Natl Acad Sci U S A (1974) 5.05

Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J Biol Chem (1974) 4.98

Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. Genes Dev (1998) 4.86

Activation of cholesterol synthesis in preference to fatty acid synthesis in liver and adipose tissue of transgenic mice overproducing sterol regulatory element-binding protein-2. J Clin Invest (1998) 4.78

Elevated levels of SREBP-2 and cholesterol synthesis in livers of mice homozygous for a targeted disruption of the SREBP-1 gene. J Clin Invest (1997) 4.75

Infectious clones and vectors derived from adeno-associated virus (AAV) serotypes other than AAV type 2. J Virol (1998) 4.71

Receptor-mediated control of cholesterol metabolism. Science (1976) 4.67

SREBP-2, a second basic-helix-loop-helix-leucine zipper protein that stimulates transcription by binding to a sterol regulatory element. Proc Natl Acad Sci U S A (1993) 4.61

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science (1985) 4.51

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat (1992) 4.48

Independent regulation of sterol regulatory element-binding proteins 1 and 2 in hamster liver. Proc Natl Acad Sci U S A (1995) 4.40

Receptor-mediated endocytosis: insights from the lipoprotein receptor system. Proc Natl Acad Sci U S A (1979) 4.22

Domain map of the LDL receptor: sequence homology with the epidermal growth factor precursor. Cell (1984) 4.21