Article
Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.
The Journal of biological chemistry - 2 Sept 2011
Bowden Kristin L, Bilbey Nicolas J, Bilawchuk Leanne M, Boadu Emmanuel, Sidhu Rohini, Ory Daniel S, Du Hong, Chan Teddy, Francis Gordon A
Abstract excerpt
ATP-binding cassette transporter A1 (ABCA1) mediates the rate-limiting step in high density lipoprotein (HDL) particle formation, and its expression is regulated primarily by oxysterol-dependent activation of liver X receptors. We previously reported that ABCA1 expression and HDL formation are impaired in the lysosomal cholesterol storage disorder Niemann-Pick disease type C1 and that plasma HDL-C is low in the...
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