Article
Molecular modeling of D151Y and M391T mutations in the LDL receptor.
Biochemical and biophysical research communications - 12 Dec 2008
Jeenduang Nutjaree, Promptmas Chamras, Pongrapeeporn Klai-Upsorn S, Porntadavity Sureerut
Abstract excerpt
The low-density lipoprotein receptor (LDLR) is a key regulator of cholesterol homeostasis, and defects in the function of LDLR result in familial hypercholesterolemia (FH). In the present study, we performed structural analyses of two novel LDLR mutations, D151Y and M391T. Both mutations occurred in conserved residues of LDLR. The D151Y mutation, in the ligand binding domain, caused an elimination of a hydrogen...
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