Apolipoprotein E5 (Glu212–>Lys): increased binding to cell surface proteoglycans but decreased uptake and lysosomal degradation in cultured fibroblasts.
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...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
1996-01-01
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Series: | Journal of Lipid Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S0022227520391069 |