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Nat Genet. 2000 Feb;24(2):192-6.

Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice.

Author information

1
Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, Germany.

Abstract

Mutations in the gene encoding ATP-binding cassette transporter 1 ( ABC1) have been reported in Tangier disease (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 (RES) and aberrant cellular lipid trafficking. 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.

PMID:
10655069
DOI:
10.1038/72869
[Indexed for MEDLINE]

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