Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome

Abstract

Low density lipoprotein receptor (LDLR) family members are involved in signaling in the developing brain. Previously we have reported that missense mutations in the Very Low Density Lipoprotein Receptor gene (VLDLR), causing Dysequilibrium syndrome (DES), disrupt ligand-binding, due to endoplasmic reticulum (ER) retention of the mutants. We explored the… (More)
DOI: 10.1038/s41598-017-19053-8

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