Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype
Clive R. Pullinger, … , Mary J. Malloy, John P. Kane
Clive R. Pullinger, … , Mary J. Malloy, John P. Kane
Published July 1, 2002
Citation Information: J Clin Invest. 2002;110(1):109-117. https://doi.org/10.1172/JCI15387.
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Article Genetics

Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype

Abstract

Research Article

Authors

Clive R. Pullinger, Celeste Eng, Gerald Salen, Sarah Shefer, Ashok K. Batta, Sandra K. Erickson, Andrea Verhagen, Christopher R. Rivera, Sean J. Mulvihill, Mary J. Malloy, John P. Kane

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Expression of CYP7A1 in cultured HEK 293 cells showing absence of choles...
Expression of CYP7A1 in cultured HEK 293 cells showing absence of cholesterol 7-α hydroxylase activity in the L413fsX414 mutant. Cells were transfected with normal or mutant CYP7A1 plasmids (in pCDNA3.1) and incubated with [4-14C]-cholesterol. Sterols extracted from the cell media were analyzed by TLC.