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非洲人中的两种突变型低密度脂蛋白受体缓慢加工成表面形式，表现出快速降解或功能异质性。

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

作者信息

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

机构信息

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

出版信息

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

DOI:10.1042/bj2550411
PMID:3202825
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1135243/
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.

摘要

南非阿非利卡人身上发现的两种不同的突变型低密度脂蛋白受体表现出翻译后加工成熟形式的延迟。一种突变产生的细胞表面受体遭受异常快速的降解，而另一种则与以正常速率降解的功能异质性表面群体有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c44b/1135243/06fb46b0234e/biochemj00221-0047-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c44b/1135243/434c82d02229/biochemj00221-0046-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c44b/1135243/5cacf4fa8b4c/biochemj00221-0046-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c44b/1135243/06fb46b0234e/biochemj00221-0047-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c44b/1135243/434c82d02229/biochemj00221-0046-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c44b/1135243/5cacf4fa8b4c/biochemj00221-0046-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c44b/1135243/06fb46b0234e/biochemj00221-0047-a.jpg

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本文引用的文献

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A host of hypercholesterolaemic homozygotes in South Africa.南非有许多纯合子高胆固醇血症患者。
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Low density lipoprotein receptor mutations in South African homozygous familial hypercholesterolemic patients.
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J Clin Invest. 1989 Sep;84(3):954-61. doi: 10.1172/JCI114258.
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The LDL receptor locus in familial hypercholesterolemia: multiple mutations disrupt transport and processing of a membrane receptor.家族性高胆固醇血症中的低密度脂蛋白受体基因座：多种突变破坏膜受体的转运和加工。
Cell. 1983 Mar;32(3):941-51. doi: 10.1016/0092-8674(83)90079-x.
5
Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia.低密度脂蛋白受体的翻译后加工及其在家族性高胆固醇血症中的基因破坏。
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Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia.抗低密度脂蛋白受体单克隆抗体作为研究受体介导的内吞作用和家族性高胆固醇血症遗传学的探针。
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The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors.家族性高胆固醇血症中的J.D.突变：细胞质结构域中的氨基酸取代阻碍低密度脂蛋白受体的内化。
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Regulation of synthesis and cell content of the low-density-lipoprotein receptor protein in cultured fibroblasts from normal and familial hypercholesterolaemic subjects.
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