Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol (Q44195503)

30 November 2017

title

Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol (English)

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22

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Kirsten Roomp

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Albert K Groen

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John J P Kastelein

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Kees Hovingh

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Alison Brownlie

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Cheryl L Wellington

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Yu-Zhou Yang

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Stephen Zhou

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Bing Tan

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Kenichi Hirano

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Karin Zwarts

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Anita Kwok

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Allison Gelfer

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Michel Marcil

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Scott Newman

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Roshni Singaraja

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Jennifer Collins

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Lin-Hua Zhang

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Sherrie Tafuri

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Jacques Genest

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publication date

1 November 2002

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Journal of Lipid Research

30 November 2017

published in

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volume

43

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issue

11

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30 November 2017

page(s)

1939-1949

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Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

30 November 2017

cites work

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The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease

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Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

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Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.

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ABC1 gene expression and ApoA-I-mediated cholesterol efflux are regulated by LXR.

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Sterol-dependent transactivation of the ABC1 promoter by the liver X receptor/retinoid X receptor

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Specific binding of ApoA-I, enhanced cholesterol efflux, and altered plasma membrane morphology in cells expressing ABC1.

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Analysis of hABC1 gene 5' end: additional peptide sequence, promoter region, and four polymorphisms.

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Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency

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The correlation of ATP-binding cassette 1 mRNA levels with cholesterol efflux from various cell lines

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Human ABCA1 BAC transgenic mice show increased high density lipoprotein cholesterol and ApoAI-dependent efflux stimulated by an internal promoter containing liver X receptor response elements in intron 1.

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ABCA1 overexpression leads to hyperalphalipoproteinemia and increased biliary cholesterol excretion in transgenic mice

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Regulation and activity of the human ABCA1 gene in transgenic mice

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Identification of Rho GTPase-dependent sites in the Dbl homology domain of oncogenic Dbl that are required for transformation

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Desensitization of the luteinizing hormone/choriogonadotropin receptor in ovarian follicular membranes is inhibited by catalytically inactive ARNO(+).

21 January 2018

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Expression of a catalytically inactive sphingosine kinase mutant blocks agonist-induced sphingosine kinase activation. A dominant-negative sphingosine kinase

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Transcriptional repression by nuclear receptors: mechanisms and role in disease

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Regulation of Egr-1-dependent gene expression by the C-terminal activation domain

21 January 2018

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Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants

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The molecular genetics of Marfan syndrome and related microfibrillopathies

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Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.

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Truncated V2 vasopressin receptors as negative regulators of wild-type V2 receptor function

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An inventory of the human ABC proteins

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The ABC family of multidrug transporters in microorganisms

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Families of transmembrane transporters selective for amino acids and their derivatives

21 January 2018

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P-glycoprotein is a dimer in the kidney and brain capillary membranes: effect of cyclosporin A and SDZ-PSC 833.

21 January 2018

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Mutations in the ABC 1 gene in familial HDL deficiency with defective cholesterol efflux

21 January 2018

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Increased ABCA1 activity protects against atherosclerosis

21 January 2018

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10.1194/JLR.M200277-JLR200

21 January 2018

Identifiers

DOI

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30 November 2017

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