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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2000-2-28
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pubmed:databankReference |
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:BöttcherAA,
pubmed-author:BroccardoCC,
pubmed-author:ChambenoitOO,
pubmed-author:ChiminiGG,
pubmed-author:DiederichWW,
pubmed-author:DrobnikWW,
pubmed-author:GötzAA,
pubmed-author:KaminskiW EWE,
pubmed-author:LacknerK JKJ,
pubmed-author:LangmannTT,
pubmed-author:LiebischGG,
pubmed-author:LucianiM FMF,
pubmed-author:OrsóEE,
pubmed-author:RotheGG,
pubmed-author:SchmittII,
pubmed-author:SprussTT
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pubmed:issnType |
Print
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pubmed:volume |
24
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
192-6
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:10655069-ATP-Binding Cassette Transporters,
pubmed-meshheading:10655069-Animals,
pubmed-meshheading:10655069-Apoptosis,
pubmed-meshheading:10655069-Blood Platelets,
pubmed-meshheading:10655069-Cell Membrane,
pubmed-meshheading:10655069-Cholesterol,
pubmed-meshheading:10655069-Cholesterol, HDL,
pubmed-meshheading:10655069-Fibroblasts,
pubmed-meshheading:10655069-Genotype,
pubmed-meshheading:10655069-Glycoproteins,
pubmed-meshheading:10655069-Golgi Apparatus,
pubmed-meshheading:10655069-Humans,
pubmed-meshheading:10655069-Intestinal Mucosa,
pubmed-meshheading:10655069-Intestine, Small,
pubmed-meshheading:10655069-Lipid Metabolism,
pubmed-meshheading:10655069-Mice,
pubmed-meshheading:10655069-Mice, Knockout,
pubmed-meshheading:10655069-Molecular Sequence Data,
pubmed-meshheading:10655069-Phospholipids,
pubmed-meshheading:10655069-Tangier Disease,
pubmed-meshheading:10655069-Triglycerides
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pubmed:year |
2000
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pubmed:articleTitle |
Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice.
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pubmed:affiliation |
Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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