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Article

Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy.

Arteriosclerosis, thrombosis, and vascular biology - 1 May 2006

Berge Knut Erik, Ose Leiv, Leren Trond P

Abstract excerpt

OBJECTIVE: The proprotein convertase subtilisin/kexin type 9 (PCSK9) gene encodes a proprotein convertase that causes degradation of cell surface low-density lipoprotein receptors (LDLRs). Mutations in the PCSK9 gene that disrupt the normal function of PCSK9 could therefore result in increased number of LDLRs and hypocholesterolemia. Also, the cholesterol-lowering effect of statins could be increased in subjects...

Read the complete abstract on PubMed

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Share to Cholesterol, LDL
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hydroxymethylglutaryl-CoA Reductase Inhibitors

Share to Mutation, Missense

Share to Proprotein Convertase 9

Share to Proprotein Convertases

Share to Receptors, LDL

Share to Serine Endopeptidases

Source

Identifiers

PMID: 16424354
DOI: 10.1161/01.ATV.0000204337.81286.1c

Genes

PCSK9
LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy.PMID 16424354Read ↗

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