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

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

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...

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Bibliographic Details
Main Authors: Cheryl L. Wellington, Yu-Zhou Yang, Stephen Zhou, Susanne M. Clee, Bing Tan, Kenichi Hirano, Karin Zwarts, Anita Kwok, Allison Gelfer, Michel Marcil, Scott Newman, Kirsten Roomp, Roshni Singaraja, Jennifer Collins, Lin-Hua Zhang, Albert K. Groen, Kees Hovingh, Alison Brownlie, Sherrie Tafuri, Jacques Genest, Jr., John J.P. Kastelein, Michael R. Hayden
Format: Article
Language:English
Published: Elsevier 2002-11-01
Series:Journal of Lipid Research
Subjects:
high density lipoprotein cholesterol
cholesterol efflux
pharmacogenomics
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520327693

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http://www.sciencedirect.com/science/article/pii/S0022227520327693

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