Article
Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice.
Nature genetics - 1 Feb 2000
Orsó E, Broccardo C, Kaminski W E, Böttcher A, Liebisch G, Drobnik W, Götz A, Chambenoit O, Diederich W, Langmann T, Spruss T, Luciani M F, Rothe G, Lackner K J, Chimini G, Schmitz G
Abstract excerpt
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-endothe...
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