Literature DB >> 3202825

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

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

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.

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Year:  1988        PMID: 3202825      PMCID: PMC1135243          DOI: 10.1042/bj2550411

Source DB:  PubMed          Journal:  Biochem J        ISSN: 0264-6021            Impact factor:   3.857


  21 in total

Review 1.  The low-density lipoprotein pathway and its relation to atherosclerosis.

Authors:  J L Goldstein; M S Brown
Journal:  Annu Rev Biochem       Date:  1977       Impact factor: 23.643

2.  Fluorographic detection of radioactivity in polyacrylamide gels with the water-soluble fluor, sodium salicylate.

Authors:  J P Chamberlain
Journal:  Anal Biochem       Date:  1979-09-15       Impact factor: 3.365

Review 3.  Defective LDL receptors that are common in a large population. Familial hypercholesterolaemia in South Africa.

Authors:  W Gevers; L A Casciola; A M Fourie; D A Sanan; G A Coetzee; D R van der Westhuyzen
Journal:  Biol Chem Hoppe Seyler       Date:  1987-10

4.  The LDL receptor locus in familial hypercholesterolemia: multiple mutations disrupt transport and processing of a membrane receptor.

Authors:  H Tolleshaug; K K Hobgood; M S Brown; J L Goldstein
Journal:  Cell       Date:  1983-03       Impact factor: 41.582

5.  Low density lipoprotein receptor mutations in South African homozygous familial hypercholesterolemic patients.

Authors:  D R van der Westhuyzen; G A Coetzee; I P Demasius; E H Harley; W Gevers; S G Baker; H C Seftel
Journal:  Arteriosclerosis       Date:  1984 May-Jun

6.  Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia.

Authors:  H Tolleshaug; J L Goldstein; W J Schneider; M S Brown
Journal:  Cell       Date:  1982-10       Impact factor: 41.582

7.  Low density lipoprotein metabolism in cultured fibroblasts from a new group of patients presenting clinically with homozygous familial hypercholesterolemia.

Authors:  G A Coetzee; D R van der Westhuyzen; G M Berger; H E Henderson; W Gevers
Journal:  Arteriosclerosis       Date:  1982 Jul-Aug

8.  A host of hypercholesterolaemic homozygotes in South Africa.

Authors:  H C Seftel; S G Baker; M P Sandler; M B Forman; B I Joffe; D Mendelsohn; T Jenkins; C J Mieny
Journal:  Br Med J       Date:  1980-09-06

9.  Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia.

Authors:  U Beisiegel; W J Schneider; J L Goldstein; R G Anderson; M S Brown
Journal:  J Biol Chem       Date:  1981-11-25       Impact factor: 5.157

10.  Biosynthesis of N- and O-linked oligosaccharides of the low density lipoprotein receptor.

Authors:  R D Cummings; S Kornfeld; W J Schneider; K K Hobgood; H Tolleshaug; M S Brown; J L Goldstein
Journal:  J Biol Chem       Date:  1983-12-25       Impact factor: 5.157

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  7 in total

1.  Chylomicron remnant clearance from the plasma is normal in familial hypercholesterolemic homozygotes with defined receptor defects.

Authors:  D C Rubinsztein; J C Cohen; G M Berger; D R van der Westhuyzen; G A Coetzee; W Gevers
Journal:  J Clin Invest       Date:  1990-10       Impact factor: 14.808

Review 2.  Medical genetics in South Africa.

Authors:  T Jenkins
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

3.  Multiple mutations underlying familial hypercholesterolemia in the South African population.

Authors:  H E Henderson; M J Kotze; G M Berger
Journal:  Hum Genet       Date:  1989-08       Impact factor: 4.132

4.  Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment.

Authors:  Kara N Maxwell; Edward A Fisher; Jan L Breslow
Journal:  Proc Natl Acad Sci U S A       Date:  2005-01-27       Impact factor: 11.205

5.  Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.

Authors:  E Leitersdorf; D R Van der Westhuyzen; G A Coetzee; H H Hobbs
Journal:  J Clin Invest       Date:  1989-09       Impact factor: 14.808

6.  Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas.

Authors:  F Graadt van Roggen; D R van der Westhuyzen; A D Marais; W Gevers; G A Coetzee
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

7.  Deletion of two growth-factor repeats from the low-density-lipoprotein receptor accelerates its degradation.

Authors:  D R van der Westhuyzen; M L Stein; H E Henderson; A D Marais; A M Fourie; G A Coetzee
Journal:  Biochem J       Date:  1991-08-01       Impact factor: 3.857

  7 in total

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