Article
Deletion of two growth-factor repeats from the low-density-lipoprotein receptor accelerates its degradation.
The Biochemical journal - 1 Aug 1991
van der Westhuyzen D R, Stein M L, Henderson H E, Marais A D, Fourie A M, Coetzee G A
Abstract excerpt
The region of the low-density-lipoprotein (LDL) receptor showing sequence similarity to the epidermal-growth-factor (EGF) precursor is required for LDL binding and the acid-induced dissociation of ligand and receptor. We describe here a naturally occurring mutant LDL receptor, found in a patient with homozygous familial hypercholesterolaemia, which lacks the first two growth-factor-like repeats of the...
Topics
- Adolescent
- Apolipoproteins E
- Base Sequence
- Blotting, Southern
- Chromosome Deletion
- Female
- Humans
- Hyperlipoproteinemia Type II
- Lipoproteins, LDL
- Lipoproteins, VLDL
- Molecular Sequence Data
