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Article

Degradation of the LDL receptor class 2 mutants is mediated by a proteasome-dependent pathway.

Journal of lipid research - 1 Jun 2004

Li Yonghe, Lu Wenyan, Schwartz Alan L, Bu Guojun

Abstract excerpt

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. T...

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Identifiers

PMID: 14993243
DOI: 10.1194/jlr.M300482-JLR200

Genes

LDLR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14993243-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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