Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module

Goldstein, J. L. et al. Receptor-mediated endocytosis: concepts emerging from the LDL receptor system. Annu. Rev. Cell Biol 1, 1–39 (1985).

Brown, M. S. & Goldstein, J. L. Areceptor-mediated pathway for cholesterol homeostasis. Science 232, 34–47 (1986).

Esser, V. et al. Mutational analysis of the ligand binding domain of the low density lipoprotein receptor. J. Biol. Chem. 26, 13282–13290 (1988).

Russell, D. W., Brown, M. S. & Goldstein, J. L. Different combinations of cysteine-rich repeats mediate binding of low density lipoprotein receptor to two different proteins. J. Biol. Chem. 264, 21782–21688 (1989).

Altschul, S. F. et al. Basic local alignment search tool. J. Mol. Biol. 215, 403–410 (1990).

Goldstein, J. L., Hobbs, H. H. & Brown, M. S. in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C. S., Beandet, A. L., Sly, W. S. & Valle, D.) 1981–2030 (McGraw Hill, New York, 1995).

Daly, N. L. et al. Three-dimensional structure of a cysteine-rich repeat from the low-density lipoprotein receptor. Proc. Natl Acad. Sci. USA 92, 6334–6338 (1995).

Daly, N. L., Djordjevic, J. T., Kroon, P. A. & Smith, R. Three-dimensional structure of the second cysteine-rich repeat from the human low-density lipoprotein receptor. Biochemistry 34, 14474–14481 (1995).

Blacklow, S. C. & Kim, P. S. Protein folding and calcium binding defects arising from familial hypercholesterolemia mutations of the LDL receptor. Nature Struct. Biol. 3, 758–762 (1996).

van Driel, I. R., Goldstein, J. L., Südhof, T. C. & Brown, M. S. First cysteine-rich repeat in ligand-binding domain of low density lipoprotein receptor binds Ca2+ and monoclonal antibodies, but not lipoproteins. J. Biol. Chem. 262, 17443–17449 (1987).

Abbadi, A. et al. Involvement of side functions in peptide structures: the Asx turn. Occurrence and conformational aspects. J. Am. Chem. Soc. 113, 2729–2735 (1991).

Südhof, T. C., Goldstein, J. L., Brown, M. S. & Russell, D. W. The LDL receptor gene: a mosaic of exons shared with different proteins. Science 228, 815–822 (1985).

Mahley, R. W. Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 240, 622–630 (1988).

Wilson, C. et al. Three-dimensional structure of the LDL receptor-binding domain of human apolipoprotein E. Science 252, 1817–1822 (1991).

Ji, Z. -S., Fazio, S., Lee, Y. -L. & Mahley, R. W. Secretion-capture role for apolipoprotein E in remnant lipoprotein metabolism involving cell surface heparan sulfate proteoglycans. J. Biol. Chem. 269, 2764–2772 (1994).

Innerarity, T. L., Pitas, R. E. & Mahley, R. W. Binding of arginine-rich (E) apoprotein after recombination with phospholipid vesicles to the low density lipoprotein receptors of fibroblasts. J. Biol. Chem. 254, 4186–4190 (1979).

Otwinowski, Z. & Minor, W. Data Collection and Processing (eds Sawyer, L., Isaacs, N. & Bailey, S.) 556–562 (SERC Daresbury Laboratory, Warrington, UK, 1993).

CCP4. The SERC (UK) Collaborative Computing Project No. 4A Suite of Programs for Protein Crystallography (SERC Daresbury Laboratory, Warringto, UK, Warringto 1979).

Cowtan, K. D. Joint CCP4 and ESF-EACBM Newsletter on Protein Crystallography 31, 34–38 (1994).

Jones, T. A., Zou, J. Y., Cowan, S. W. & Kjeldgaard, M. Improved methods for binding protein models in electron density maps and the location of errors in these models. Acta Crystallogr. A 47, 110–119 (1991).

Read, R. J. Improved Fourier coefficients for maps using phases from partial structures with errors. Acta Crystallogr. A 42, 140–149 (1986).

Brünger, A. T. Free R value: a novel statistical quantity for assessing the accuracy of crystal structures. Nature 355, 472–475 (1992).

Brünger, A. T. X-PLOR Version 3.1. A System for X-ray Crystallography and NMR (Yale Univ. Press, New Haven, CT, 1992).

Yamamoto, T. et al. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 39, 27–38 (1984).

Carson, M. & Bugg, C. E. Algorithm for ribbon models of proteins. J. Mol. Graph. 4, 121–122 (1986).

McPhalen, C. A., Strynadka, N. C. J. & James, M. N. G. Calcium binding sites in proteins: a structural perspective. Adv. Prot. Chem. 42, 77–144 (1991).

Nicholls, A., Sharp, K. A. & Honig, B. Protein folding and association: insights from the interfacial and thermodynamic properties of hydrocarbons. Proteins 11, 281–296 (1991).