The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors (Q34196707)

31 July 2017

title

The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors (English)

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familial hypercholesterolemia

31 July 2017

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6

J L Goldstein

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C G Davis

1

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M A Lehrman

2

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D W Russell

3

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R G Anderson

4

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M S Brown

5

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publication date

1 April 1986

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31 July 2017

language of work or name

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31 July 2017

volume

45

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issue

1

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31 July 2017

page(s)

15-24

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The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

31 July 2017

cites work

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24 May 2022

https://opencitations.net/index/coci/api/v1/citations/10.1016/0092-8674(84)90188-0

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

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0092-8674(86)90533-7

The LDL receptor gene: a mosaic of exons shared with different proteins

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0092-8674(86)90533-7

Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoprotein

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11 October 2022

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Transformation of mammalian cells with genes from procaryotes and eucaryotes

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11 October 2022

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A cDNA cloning vector that permits expression of cDNA inserts in mammalian cells

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11 October 2022

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Lambda Charon vectors (Ch32, 33, 34 and 35) adapted for DNA cloning in recombination-deficient hosts

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0092-8674(86)90533-7

Coated pits, coated vesicles, and receptor-mediated endocytosis

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0092-8674(86)90533-7

2 New M13 vectors for cloning

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0092-8674(86)90533-7

Sterols accelerate degradation of hamster 3-hydroxy-3-methylglutaryl coenzyme A reductase encoded by a constitutively expressed cDNA.

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0092-8674(86)90533-7

Coated pits in action

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0092-8674(86)90533-7

Genetics of the LDL receptor: Evidence that the mutations affecting binding and internalization are allelic

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0092-8674(86)90533-7

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

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11 October 2022

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Oligonucleotide-Directed Mutagenesis: A Simple Method Using Two Oligonucleotide Primers and a Single-Stranded DNA Template

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11 October 2022

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A mutation that impairs the ability of lipoprotein receptors to localise in coated pits on the cell surface of human fibroblasts

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0092-8674(86)90533-7

19 Receptor-mediated endocytosis of low-density lipoprotein in cultured cells

1 reference

11 October 2022

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32 Oligonucleotide-directed mutagenesis of DNA fragments cloned into M13 vectors

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0092-8674(86)90533-7

Receptor-mediated endocytosis: concepts emerging from the LDL receptor system

1 reference

11 October 2022

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A general method for saturation mutagenesis of cloned DNA fragments

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0092-8674(86)90533-7

Identifiers

DOI

10.1016/0092-8674(86)90533-7

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31 July 2017

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