• 1
    Goldstein, J. L., Hobbs, H. H. & Brown, M. S. (1995) Familial hypercholesterolemia, in The metabolic and molecular bases of inherited disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Stanbury, J. B., Wyngaarden, J. B. & Fredrickson, D. S., eds) pp. 19812030, McGraw-Hill, Inc., New York .
  • 2
    Südhof, T. C., Goldstein, J. L., Brown, M. S. & Russell, D. W. (1985) The LDL receptor gene: a mosaic of exons shared with different proteins, Science 228, 815822.
  • 3
    Brown, M. S. & Goldstein, J. L. (1986) A receptor-mediated path-way for cholesterol homeostasis, Science 232, 3447.
  • 4
    Mahley, R. W. (1988) Apolipoprotein E: cholesterol-transport protein with expanding role in cell biology, Science 240, 622630.
  • 5
    Hobbs, H. H., Brown, M. S. & Goldstein, J. L. (1992) Molecular genetics of the LDL receptor gene in familial hypercholesterolemia, Hum. Mutat. 1, 445466.
  • 6
    Leitersdorf, E., Hobbs, H. H., Fourie, A. M., Jacobs, M., van der Westhuyzen, D. R. & Coetzee, G. A. (1988) Deletion in the first cysteine-rich repeat of the low-density-lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia, Proc. Natl Acad. Sci. USA 85, 79127916.
  • 7
    Daly, N., Scanlon, M. J., Djordjevic, J. T., Kroon, P. A. & Smith, R. (1995) Three-dimensional structure of a cysteine-rich repeat from the low-density lipoprotein receptor, Proc. Natl Acad. Sci. USA 92, 63346338.
  • 8
    Bieri, S., Djordjevic, J. T., Daly, N., Smith, R. & Kroon, P. A. (1995) Disulfide bridges of a cysteine-rich repeat of the LDL receptor ligand-binding domain, Biochemistry 34, 1305913065.
  • 9
    Deng, W. P. & Nickoloff, J. A. (1992) Site-directed mutagenesis of virtually any plasmid by eliminating a unique site, Anal. Biochem. 200, 8188.
  • 10
    Ausubel, F. M., Brent, R., Kingston, R. E., Moore, D. D., Seidman, J. G., Smith, J. A. & Struhl, K. (1993) Current protocols in molecular biology, John Wiley and Sons, New York .
  • 11
    Smith, D. B. & Johnson, K. S. (1988) Single-step purification of polypeptides expressed in Escherichia coli as fusions with glutathione S-transferase, Gene (Amst.) 67, 3140.
  • 12
    Gray, W. R. (1993) Disulfide structures of highly bridged peptides: a new strategy for analysis, Protein Sci. 2, 17321748.
  • 13
    Yamamoto, T., Davis, C. G., Brown, M. S., Schneider, W. J., Casey, M. L., Goldstein, J. L. & Russell, D. W. (1984) The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA, Cell 39, 2738.
  • 14
    van Driel, I. R., Goldstein, J. L., Südhof, T. C. & Brown, M. S. (1987) First cysteine-rich repeat in ligand-binding domain of low-density-lipoprotein receptor binds Ca2+ and monoclonal antibodies, J. Biol. Chem. 262, 1744317449.
  • 15
    Hammond, C., Braakman, I. & Helenius, A. (1994) Role of N-linked oligosaccharide recognition, glucose trimming, and calnexin in glycoprotein folding and quality control, Proc. Natl Acad. Sci. USA 91, 913917.
  • 16
    Hurtley, S. M. & Helenius, A. (1989) Protein oligomerization in the endoplasmic reticulum, Annu. Rev. Cell Biol. 5, 277307.
  • 17
    Esser, V., Limbird, L. E., Brown, M. S., Goldstein, J. L. & Russell, D. W. (1988) Mutational analysis of the ligand-binding domain of the low-density-lipoprotein receptor, J. Biol. Chem. 263, 1328213290.
  • 18
    Bieri, S., Djordjevic, J. T., Jamshidi, N., Smith, R. & Kroon, P. A. (1995) Expression and disulfide-bond connectivity of the second ligand-binding repeat of the human LDL receptor, FEBS Lett. 371, 341344.
  • 19
    Fourie, A. M., Coetzee, G. A., Gevers, W. & van der Westhuyzen, D. R. (1992) Low-density lipoprotein receptor point mutation results in expression of both active and inactive surface forms of the same mutant receptor, Biochemistry 31, 1275412759.
  • 20
    Graadt van Roggen, J. F., van der Westhuyzen, D. R., Coetzee, G. A., Marais, A. D., Steyn, K., Langenhoven, E. & Kotze, M. J. (1995) FH Afrikaner-3 LDL receptor mutation results in defective LDL receptors and causes a mild form of familial hypercholesterolemia, Arterioscler. Thromb. Vasc. Biol. 15, 765772.