title: Two mutant low-density-lipoprotein receptors in Afrikaners slowly processed to surface forms exhibiting rapid degradation or functional heterogeneity.
abstract: Two distinct mutant low-density-lipoprotein receptors in South African Afrikaners exhibit retarded posttranslational processing to mature forms. One mutation gives rise to cell-surface receptors that are subject to abnormally rapid degradation, whereas the other is associated with a functionally heterogeneous surface population degraded at a normal rate.
authors.affiliation: Department of Medical Biochemistry, University of Cape Town Medical School, South Africa.
authors.forename: A M
authors.initials: AM
authors.lastname: Fourie
authors.forename: G A
authors.initials: GA
authors.lastname: Coetzee
authors.forename: W
authors.initials: W
authors.lastname: Gevers
authors.forename: D R
authors.initials: DR
authors.lastname: van der Westhuyzen
mesh_terms: D005006:Ethnicity / Q000235:genetics; D005347:Fibroblasts / Q000187:drug effects / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007074:Immunoglobulin G / Q000378:metabolism; D008715:Methionine / Q000378:metabolism; D009154:Mutation; D009426:Netherlands / Q000208:ethnology; D009439:Neuraminidase / Q000494:pharmacology; D011402:Pronase / Q000494:pharmacology; D011973:Receptors, LDL / Q000235:genetics* / Q000378:metabolism; D013019:South Africa; D044465:White People / Q000235:genetics
chemical_list: D007074:Immunoglobulin G; D011973:Receptors, LDL; D008715:Methionine; D009439:Neuraminidase; D011402:Pronase