Biosynthesis and processing of normal and mutant receptors for low density lipoprotein

W. J. Schneider, H. Tolleshaug, M. S. Brown, J. L. Goldstein

Research output: Contribution to journalArticle


In familial hypercholesterolemia, mutations in the structural gene for the LDL receptor disrupt normal synthesis, transport, and processing of this cell surface glycoprotein. As a consequence, mutant LDL receptors do not carry out effectively their physiological function, i.e., to remove LDL-cholesterol from the plasma. The resulting overaccumulation of cholesterol in the plasma leads to premature atherosclerosis.

Original languageEnglish (US)
Pages (from-to)10-12
Number of pages3
JournalArztliche Laboratorium
Issue number1
StatePublished - Jan 1 1988


ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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