Article
Apolipoprotein E5 (Glu212-->Lys): increased binding to cell surface proteoglycans but decreased uptake and lysosomal degradation in cultured fibroblasts.
Journal of lipid research - 1 Aug 1996
Feussner G, Scharnagl H, Scherbaum C, Acar J, Dobmeyer J, Lohrmann J, Wieland H, März W
Abstract excerpt
A new apolipoprotein (apo) E variant, apoE5 (Glu212-->Lys) was identified in a Turkish family. The variant was due to a point mutation (CAG-->AAG) at the first nucleotide position of the codon encoding amino acid residue 212 of the mature apoE. The 23-year-old index patient was heterozygous for t...
Topics
- Adolescent
- Adult
- Animals
- Apolipoproteins E
- Binding, Competitive
- CHO Cells
- Cells, Cultured
- Child
- Child, Preschool
- Cricetinae
- Endocytosis
- Exons
- Female
- Fibroblasts
- Heparin
- Humans
- Hyperlipidemia, Familial Combined
- Interpersonal Relations