Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.

@article{Bowden2011LysosomalAL,
  title={Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.},
  author={Kristin L Bowden and Nicolas J Bilbey and Leanne M. Bilawchuk and Emmanuel Boadu and Rohini Sidhu and Daniel S Ory and Hong Du and Teddy Chan and Gordon A. Francis},
  journal={The Journal of biological chemistry},
  year={2011},
  volume={286 35},
  pages={30624-35}
}
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 majority of Niemann-Pick disease type C patients. Here, we show that ABCA1… CONTINUE READING