Two mutant low-density-lipoprotein receptors in Afrikaners slowly processed to surface forms exhibiting rapid degradation or functional heterogeneity.
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.
Fourie
A M
AM
Department of Medical Biochemistry, University of Cape Town Medical School, South Africa.
Coetzee
G A
GA
Gevers
W
W
van der Westhuyzen
D R
DR
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
D007074:Immunoglobulin G; D011973:Receptors, LDL; D008715:Methionine; D009439:Neuraminidase; D011402:Pronase