EurekaMag.com logo
+ Site Statistics
References:
52,725,316
Abstracts:
28,411,598
+ Search Articles
+ Subscribe to Site Feeds
EurekaMag Most Shared ContentMost Shared
EurekaMag PDF Full Text ContentPDF Full Text
+ PDF Full Text
Request PDF Full TextRequest PDF Full Text
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter
Follow on Google+Follow on Google+
Follow on LinkedInFollow on LinkedIn

+ Translate

The low density lipo protein receptor locus in familial hyper cholesterolemia multiple mutations disrupt transport and processing of a membrane receptor


Cell 32(3): 941-952
The low density lipo protein receptor locus in familial hyper cholesterolemia multiple mutations disrupt transport and processing of a membrane receptor
The receptor for low-density lipoprotein (LDL) is synthesized as a 120 kd [kilodalton] precursor that undergoes a 40 kd posttranslational increase in apparent MW en route to the cell surface. Seven mutations are described that disrupt synthesis, processing and transport of the receptor in fibroblasts from 77 subjects with the clinical diagnosis of homozygous familial hypercholesterolemia. One mutation obliterates synthesis of immunoprecipitable precursor. Three mutations specify precursors (100, 120 and 135 kd) that fail to undergo normal processing and fail to reach the cell surface. The other 3 mutations specify precursors (100, 120 and 170 kd) that undergo a normal 40 kd increase in MW and reach the surface, but do not bind LDL normally. Each mutation segregates as an allele at the LDL receptor locus. Signals for transport of receptors from endoplasmic reticulum to the cell surface are evidently contained within the amino acid sequences of the receptors, and mutations affecting these sequences can disrupt receptor transport.


Accession: 006712207



Related references

The LDL receptor locus in familial hypercholesterolemia: multiple mutations disrupt transport and processing of a membrane receptor. Cell 32(3): 941-951, 1983

The low density lipo protein receptor locus and the genetics of familial hyper cholesterolemia. Roman, H L , A Campbell And L M Sandler (Ed ) Annual Review Of Genetics, Vol 13 Viii+494p Annual Reviews, Inc : Palo Alto, Calif , Usa Illus P259-290, 1979

Post translational processing of the low density lipo protein receptor and its genetic disruption in familial hyper cholesterolemia. Cell 30(3): 715-724, 1982

Genetic heterogeneity in familial hyper cholesterolemia evidence for 2 different mutations affecting functions of low density lipo protein receptor. Proceedings of the National Academy of Sciences of the United States of America 72(3): 1092-1096, 1975

Genetics of the low density lipo protein receptor 1. low density lipo protein receptor activity in cultured fibroblasts from subjects with or without familial hyper cholesterolemia. Clinical Genetics 20(2): 90-103, 1981

Serum lipo protein and lymphocyte low density lipo protein receptor studies in parents and children with hetero zygous familial hyper cholesterolemia. Scandinavian Journal of Clinical & Laboratory Investigation 42(2): 113-118, 1982

Watanabe heritable hyper lipidemic rabbit a low density lipo protein receptor deficient animal model for familial hyper cholesterolemia. Febs Letters 118(1): 81-84, 1980

Low density lipo protein receptor activity in homo zygous familial hyper cholesterolemia. Clinical Research 29(2): 422A, 1981

Familial hyper cholesterolemia with minimal reduction of low density lipo protein receptor activity. Clinical Research 28(2): 402A, 1980

The low density lipo protein receptor defect in familial hyper cholesterolemia implications for pathogenesis and therapy. Medical Clinics of North America 66(2): 335-362, 1982