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 endo...

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Bibliographic Details
Main Authors: Praseetha Kizhakkedath, Anne John, Lihadh Al-Gazali, Bassam R. Ali
Format: Article
Language:English
Published: Nature Publishing Group 2018-01-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-19053-8