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

doi:10.1194/jlr.m200277-jlr200

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Article

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

Journal of lipid research - 1 Nov 2002

Wellington Cheryl L, Yang Yu-Zhou, Zhou Stephen, Clee Susanne M, Tan Bing, Hirano Kenichi, Zwarts Karin, Kwok Anita, Gelfer Allison, Marcil Michel, Newman Scott, Roomp Kirsten, Singaraja Roshni, Collins Jennifer, Zhang Lin-Hua, Groen Albert K, Hovingh Kees, Brownlie Alison, Tafuri Sherrie, Genest Jacques, Kastelein John J P, Hayden Michael R

Abstract excerpt

Mutations in ABCA1 uniformly decrease plasma HDL-cholesterol (HDL-C) and reduce cholesterol efflux, yet different mutations in ABCA1 result in different phenotypic effects in heterozygotes. For example, truncation mutations result in significantly lower HDL-C and apoliprotein A-I (apoA-I) levels in heterozygotes compared with nontruncation mutations, suggesting that truncation mutations may negatively affect the...

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PMID: 12401893
DOI: 10.1194/jlr.m200277-jlr200

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ABCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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