(Q28204028)

https://api.crossref.org/works/10.1074/JBC.M304855200

autosomal recessive hypercholesterolemia

2 January 2024

main subject

endocytosis

0 references

0 references

hypercholesterolemia

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Early endosome antigen 1

1 reference

Low density lipoprotein receptor

GOA release 2020-03-11

1 reference

Low density lipoprotein receptor adaptor protein 1

GOA release 2020-03-11

1 reference

signal transducing adaptor protein

GOA release 2020-03-11

lipoprotein

1 reference

based on heuristic

inferred from title

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12746448

2 January 2024

1 reference

https://api.crossref.org/works/10.1074/JBC.M304855200

2 January 2024

1 reference

https://api.crossref.org/works/10.1074/JBC.M304855200

2 January 2024

5

Helen H. Hobbs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12746448

2 January 2024

4

Jonathan C. Cohen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12746448

2 January 2024

author name string

Christopher Jones

1

0 references

Wei-Ping Li

3

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Joachim Herz

6

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Robert E. Hammer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12746448

2 January 2024

language of work or name

English

0 references

publication date

1 August 2003

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13 May 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12746448

full work available at URL

2 January 2024

http://www.jbc.org/article/S0021925820844020/pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12746448

https://api.elsevier.com/content/article/PII:S0021925820844020?httpAccept=text/xml

2 January 2024

1 reference

https://api.crossref.org/works/10.1074/JBC.M304855200

https://api.elsevier.com/content/article/PII:S0021925820844020?httpAccept=text/plain

2 January 2024

1 reference

https://api.crossref.org/works/10.1074/JBC.M304855200

https://syndication.highwire.org/content/doi/10.1074/jbc.M304855200

2 January 2024

1 reference

https://api.crossref.org/works/10.1074/JBC.M304855200

Journal of Biological Chemistry

2 January 2024

published in

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volume

278

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issue

31

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page(s)

29024-30

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cites work

Role of the low density lipoprotein receptor in the flux of cholesterol through the plasma and across the tissues of the mouse

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Molecular medicine. The cholesterol quartet

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Molecular mechanisms of autosomal recessive hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

PTB or not PTB -- that is the question

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Interaction of cytosolic adaptor proteins with neuronal apolipoprotein E receptors and the amyloid precursor protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Inhibition of hepatic chylomicron remnant uptake by gene transfer of a receptor antagonist

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Inducible inactivation of hepatic LRP gene by cre-mediated recombination confirms role of LRP in clearance of chylomicron remnants

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Protein and cell membrane iodinations with a sparingly soluble chloroamide, 1,3,4,6-tetrachloro-3a,6a-diphenylglycoluril

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Domain map of the LDL receptor: Sequence homology with the epidermal growth factor precursor

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Conditional expression of mutant M-line titins results in cardiomyopathy with altered sarcomere structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Severe hypercholesterolemia and atherosclerosis in apolipoprotein E-deficient mice created by homologous recombination in ES cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Interactions of the low density lipoprotein receptor gene family with cytosolic adaptor and scaffold proteins suggest diverse biological functions in cellular communication and signal transduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

The PX-domain protein SNX17 interacts with members of the LDL receptor family and modulates endocytosis of the LDL receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Dual roles for the Dab2 adaptor protein in embryonic development and kidney transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

The role of the LDL receptor in apolipoprotein B secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

A novel cellular phenotype for familial hypercholesterolemia due to a defect in polarized targeting of LDL receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Differential functions of members of the low density lipoprotein receptor family suggested by their distinct endocytosis rates

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Sustained somatic gene inactivation by viral transfer of Cre recombinase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Diet-induced hypercholesterolemia in mice: prevention by overexpression of LDL receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Homologous recombination for gene replacement in mouse cell lines.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M304855200

Diversity in protein recognition by PTB domains

21 January 2018

12

1 reference

https://api.crossref.org/works/10.1074/JBC.M304855200

Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis

2 January 2024

16

1 reference

https://api.crossref.org/works/10.1074/JBC.M304855200

Surface location and high affinity for calcium of a 500-kd liver membrane protein closely related to the LDL-receptor suggest a physiological role as lipoprotein receptor

2 January 2024

25

1 reference

https://api.crossref.org/works/10.1074/JBC.M304855200

2 January 2024

Identifiers

0 references