Apolipoprotein E5 (Glu212-->Lys): increased binding to cell surface proteoglycans but decreased uptake and lysosomal degradation in cultured fibroblasts.

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 the mutation. Examination of the proband's kindred revealed six heterozygous and two homozygous mutation carriers....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adolescent
• Share to Apolipoproteins E