Degradation of the LDL receptor class 2 mutants is mediated by a proteasome-dependent pathway
Familial hypercholesterolemia is a genetic disorder that results from various gene mutations, primarily within the LDL receptor (LDLR). Approximately 50% of the LDLR mutations are defined as class 2 mutations, with the mutant proteins partially or entirely retained in the endoplasmic reticulum. To d...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2004-06-01
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Series: | Journal of Lipid Research |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S002222752031806X |