Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1 (Q24323051)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12464675%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

title

Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12464675%20AND%20SRC:MED&resulttype=core&format=json

autosomal recessive hypercholesterolemia

15 December 2019

main subject

0 references

hypercholesterolemia

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Low density lipoprotein receptor adaptor protein 1

1 reference

positive regulation of receptor-mediated endocytosis involved in cholesterol transport

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Emily R. Eden

1

1 reference

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15 December 2019

Jemima J Burden

4

1 reference

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15 December 2019

author name string

Dilipkumar D Patel

2

1 reference

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15 December 2019

Xi-Ming Sun

3

1 reference

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15 December 2019

Michael Themis

5

1 reference

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15 December 2019

Matthew Edwards

6

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15 December 2019

Philip Lee

7

1 reference

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15 December 2019

Clare Neuwirth

8

1 reference

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15 December 2019

Rossitza P Naoumova

9

1 reference

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15 December 2019

Anne K Soutar

10

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15 December 2019

language of work or name

English

0 references

publication date

1 December 2002

1 reference

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Journal of Clinical Investigation

15 December 2019

published in

1 reference

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15 December 2019

volume

110

1 reference

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15 December 2019

issue

11

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15 December 2019

page(s)

1695-1702

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Disabled-2 exhibits the properties of a cargo-selective endocytic clathrin adaptor

15 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151635

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151635

Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151635

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151635

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151635

A perfect message: RNA surveillance and nonsense-mediated decay

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151635

Improved retroviral vectors for gene transfer and expression

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151635

Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151635

Adaptors for clathrin-mediated traffic

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151635

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151635

Tissue-specific sorting of the human LDL receptor in polarized epithelia of transgenic mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151635

Degradation by cultured fibroblasts and macrophages of unmodified and 1,2-cyclohexanedione-modified low-density lipoprotein from normal and homozygous familial hypercholesterolaemic subjects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151635

Transcriptionally active drugs improve adenovirus vector performance in vitro and in vivo

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151635

Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151635

Changes in the metabolism of modified and unmodified low-density lipoproteins during the maturation of cultured blood monocyte-macrophages from normal and homozygous familial hypercholesterolaemic subjects

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12464675

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Foam cells in explants of atherosclerotic rabbit aortas have receptors for beta-very low density lipoproteins and modified low density lipoproteins

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12464675

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12464675

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI16445

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12464675%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12464675%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

PubMed publication ID

12464675

1 reference