Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 7-Day Trial for You or Your Team.

Learn More →

Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and Abc1-deficient mice

Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and... Mutations in the gene encoding ATP-binding cassette transporter 1 ( ABC1) have been reported in Tangier disease 1,2,3 (TD), an autosomal recessive disorder that is characterized by almost complete absence of plasma high-density lipoprotein (HDL), deposition of cholesteryl esters in the reticulo-endothelial system 4 (RES) and aberrant cellular lipid trafficking 5,6,7,8,9,10,11,12 . We demonstrate here that mice with a targeted inactivation of Abc1 display morphologic abnormalities and perturbations in their lipoprotein metabolism concordant with TD. ABC1 is expressed on the plasma membrane and the Golgi complex, mediates apo-AI associated export of cholesterol and phospholipids from the cell, and is regulated by cholesterol flux. Structural and functional abnormalities in caveolar processing and the trans-Golgi secretory pathway of cells lacking functional ABC1 indicate that lipid export processes involving vesicular budding between the Golgi and the plasma membrane are severely disturbed. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Nature Genetics Springer Journals

Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and Abc1-deficient mice

Download PDF
5 pages

Loading next page...
 
/lp/springer-journals/transport-of-lipids-from-golgi-to-plasma-membrane-is-defective-in-I9c0W5gFWc

References (33)

Publisher
Springer Journals
Copyright
Copyright © 2000 by Nature America Inc.
Subject
Biomedicine; Biomedicine, general; Human Genetics; Cancer Research; Agriculture; Gene Function; Animal Genetics and Genomics
ISSN
1061-4036
eISSN
1546-1718
DOI
10.1038/72869
Publisher site
See Article on Publisher Site

Abstract

Mutations in the gene encoding ATP-binding cassette transporter 1 ( ABC1) have been reported in Tangier disease 1,2,3 (TD), an autosomal recessive disorder that is characterized by almost complete absence of plasma high-density lipoprotein (HDL), deposition of cholesteryl esters in the reticulo-endothelial system 4 (RES) and aberrant cellular lipid trafficking 5,6,7,8,9,10,11,12 . We demonstrate here that mice with a targeted inactivation of Abc1 display morphologic abnormalities and perturbations in their lipoprotein metabolism concordant with TD. ABC1 is expressed on the plasma membrane and the Golgi complex, mediates apo-AI associated export of cholesterol and phospholipids from the cell, and is regulated by cholesterol flux. Structural and functional abnormalities in caveolar processing and the trans-Golgi secretory pathway of cells lacking functional ABC1 indicate that lipid export processes involving vesicular budding between the Golgi and the plasma membrane are severely disturbed.

Journal

Nature Genetics – Springer Journals

Published: Feb 1, 2000

There are no references for this article.