title: Apolipoprotein E mutations: a comparison between lipoprotein glomerulopathy and type III hyperlipoproteinemia.
abstract: Apolipoprotein E (ApoE) serves as a ligand for the low-density lipoprotein (LDL) receptor and cell surface receptors of the LDL receptor gene family. More than 10 different causative apoE mutations associated with lipoprotein glomerulopathy (LPG) have been reported. ApoE polymorphisms including three common phenotypes (E2, E3, E4), and a variety of rare mutations can affect blood cholesterol and triglyceride levels. The N-terminal domain of apoE is folded into a four-helix bundle of amphipathic α-helices, and contains the receptor-binding domain in which most apoE mutations that cause LPG or dominant mode of type III hyperlipoproteinemia (HL) are located. No single apoE mutation has been reported that causes both LPG and the dominant mode of type III HL.
authors.affiliation: Department of Laboratory Medicine, Faculty of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-ku, Fukuoka, 814-0180, Japan, matsunag@cis.fukuoka-u.ac.jp.
authors.forename: Akira
authors.initials: A
authors.lastname: Matsunaga
authors.forename: Takao
authors.initials: T
authors.lastname: Saito
mesh_terms: D001057:Apolipoproteins E / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D006952:Hyperlipoproteinemia Type III / Q000235:genetics* / Q000473:pathology; D007674:Kidney Diseases / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D011973:Receptors, LDL / Q000378:metabolism
chemical_list: D001057:Apolipoproteins E; D011973:Receptors, LDL