Mutations affecting the binding, internalization, and lysosomal hydrolysis of low density lipoprotein in cultured human fibroblasts, lymphocytes, and aortic smooth muscle cells

M. S. Brown, R. G W Anderson, J. L. Goldstein

Research output: Chapter in Book/Report/Conference proceedingChapter


Studies comparing the metabolism of low density lipoprotein (LDL) in normal cells and in cells cultured from patients with homozygous familial hypercholesterolemia have disclosed the existence of a receptor for plasma LDL. This receptor has been identified on the surface of human fibroblasts, lymphocytes, and aortic smooth muscle cells. An extension of these studies to cell strains derived from patients with other single gene defects in cholesterol metabolism has provided additional insight into the normal mechanisms by which cells regulate their cholesterol content and how alterations in these genetic control mechanisms may predispose to atherosclerosis in man.

Original languageEnglish (US)
Title of host publicationProgress in Clinical and Biological Research
Number of pages10
Publication statusPublished - 1978


ASJC Scopus subject areas

  • Medicine(all)

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