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Article

4-Phenylbutyrate restores the functionality of a misfolded mutant low-density lipoprotein receptor.

The FEBS journal - 1 Apr 2007

Tveten Kristian, Holla Øystein L, Ranheim Trine, Berge Knut E, Leren Trond P, Kulseth Mari A

Abstract excerpt

Familial hypercholesterolemia is an autosomal dominant disease caused by mutations in the gene encoding the low-density lipoprotein receptor. To date, more than 900 different mutations have been described. Transport-defective mutations (class 2) causing partial or complete retention of the receptor in the endoplasmic reticulum are the predominant class of mutations. In a cell culture system (Chinese hamster ovary...

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Identifiers

PMID: 17408384
DOI: 10.1111/j.1742-4658.2007.05735.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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