[HTML][HTML] Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol
CL Wellington, YZ Yang, S Zhou, SM Clee, B Tan… - Journal of lipid …, 2002 - ASBMB
Mutations in ABCA1 uniformly decrease plasma HDL-cholesterol (HDL-C) and reduce
cholesterol efflux, yet different mutations in ABCA1 result in different phenotypic effects in
heterozygotes. For example, truncation mutations result in significantly lower HDL-C and
apoliprotein AI (apoA-I) levels in heterozygotes compared with nontruncation mutations,
suggesting that truncation mutations may negatively affect the wild-type allele. To
specifically test this hypothesis, we examined ABCA1 protein expression in response to 9 …
cholesterol efflux, yet different mutations in ABCA1 result in different phenotypic effects in
heterozygotes. For example, truncation mutations result in significantly lower HDL-C and
apoliprotein AI (apoA-I) levels in heterozygotes compared with nontruncation mutations,
suggesting that truncation mutations may negatively affect the wild-type allele. To
specifically test this hypothesis, we examined ABCA1 protein expression in response to 9 …