Two mutant low-density-lipoprotein receptors in Afrikaners slowly processed to surface forms exhibiting rapid degradation or functional heterogeneity

A M Fourie; G A Coetzee; W Gevers; D R van der Westhuyzen

doi:10.1042/bj2550411

Two mutant low-density-lipoprotein receptors in Afrikaners slowly processed to surface forms exhibiting rapid degradation or functional heterogeneity

Biochem J. 1988 Oct 15;255(2):411-5. doi: 10.1042/bj2550411.

Authors

A M Fourie¹, G A Coetzee, W Gevers, D R van der Westhuyzen

Affiliation

¹ Department of Medical Biochemistry, University of Cape Town Medical School, South Africa.

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Ethnicity / genetics
Fibroblasts / drug effects
Fibroblasts / metabolism
Homozygote
Humans
Immunoglobulin G / metabolism
Methionine / metabolism
Mutation
Netherlands / ethnology
Neuraminidase / pharmacology
Pronase / pharmacology
Receptors, LDL / genetics*
Receptors, LDL / metabolism
South Africa
White People / genetics

Substances

Immunoglobulin G
Receptors, LDL
Methionine
Neuraminidase
Pronase