Article
The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway.
The Journal of clinical investigation - 1 Oct 1999
Lawn R M, Wade D P, Garvin M R, Wang X, Schwartz K, Porter J G, Seilhamer J J, Vaughan A M, Oram J F
Abstract excerpt
The ABC1 transporter was identified as the defect in Tangier disease by a combined strategy of gene expression microarray analysis, genetic mapping, and biochemical studies. Patients with Tangier disease have a defect in cellular cholesterol removal, which results in near zero plasma levels of HDL and in massive tissue deposition of cholesteryl esters. Blocking the expression or activity of ABC1 reduces...
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