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Protein folding and calcium binding defects arising from familial hypercholesterolemia mutations of the LDL receptor

Nature Structural Biology volume 3, pages 758–762 (1996)Cite this article

Studies of a critical module in the ligand binding domain of the LDL receptor implicate a protein folding defect, coupled to a deficiency in calcium binding, as a major cause of familial hypercholesterolemia.

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Authors and Affiliations

  1. Howard Hughes Medical Institute, Whitehead Institute for Biomedical Research, and Department of Biology, Massachusetts Institute of Technology, Nine Cambridge Center, Cambridge, Massachusetts, 02142, USA

    Stephen C. Blacklow & Peter S. Kim

  2. Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, Massachusetts, 02115, USA

    Stephen C. Blacklow

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  1. Stephen C. Blacklow
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  2. Peter S. Kim
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Blacklow, S., Kim, P. Protein folding and calcium binding defects arising from familial hypercholesterolemia mutations of the LDL receptor. Nat Struct Mol Biol 3, 758–762 (1996). https://doi.org/10.1038/nsb0996-758

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