[HTML][HTML] Naturally occurring mutations in the largest extracellular loops of ABCA1 can disrupt its direct interaction with apolipoprotein AI
ML Fitzgerald, AL Morris, JS Rhee… - Journal of Biological …, 2002 - ASBMB
The ABCA1 transporter contains two large domains into which many of the genetic
mutations in individuals with Tangier disease fall. To investigate the structural requirements
for the cellular cholesterol efflux mediated by ABCA1, we have determined the topology of
these two domains and generated transporters harboring five naturally occurring missense
mutations in them. These mutants, unlike wild type ABCA1, produced little or no apoA-I-
stimulated cholesterol efflux when transfected into 293 cells, establishing their causality in …
mutations in individuals with Tangier disease fall. To investigate the structural requirements
for the cellular cholesterol efflux mediated by ABCA1, we have determined the topology of
these two domains and generated transporters harboring five naturally occurring missense
mutations in them. These mutants, unlike wild type ABCA1, produced little or no apoA-I-
stimulated cholesterol efflux when transfected into 293 cells, establishing their causality in …
