Journal
NATURE GENETICS
Volume 24, Issue 2, Pages 192-196Publisher
NATURE AMERICA INC
DOI: 10.1038/72869
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Mutations in the gene encoding ATP-binding cassette transporter 1 (ABC1) have been reported in Tangier disease(1-3) (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(5-12). 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-Al 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.
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