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Article

Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes.

Clinica chimica acta; international journal of clinical chemistry - 1 Feb 2010

Strøm Thea Bismo, Holla Øystein L, Cameron Jamie, Berge Knut Erik, Leren Trond P

Abstract excerpt

OBJECTIVE: Published data may suggest that the cholesterol-lowering effect of mutation R46L in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene in familial hypercholesterolemia (FH) heterozygotes, is less pronounced than in normocholesterolemic subjects. METHODS: 1130 unrelated subjects with molecularly defined FH were screened for mutation R46L in the PCSK9 gene and cell culture experiments were...

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Source

Identifiers

PMID: 19917273
DOI: 10.1016/j.cca.2009.11.008

Genes

PCSK9
LDLR

Provenance

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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Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes.PMID 19917273Read ↗

PCSK9 R46L, Lower LDL, and Cardiovascular Disease Risk in Familial HypercholesterolemiaSemantic proximity Read ↗

Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.Semantic proximity Read ↗

Elevated plasma PCSK9 level is equally detrimental for patients with nonfamilial hypercholesterolemia and heterozygous familial hypercholesterolemia, irrespective of low-density lipoprotein receptor defects.Semantic proximity Read ↗

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

Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells.Semantic proximity Read ↗

Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia indicate that proprotein convertase subtilisin/kexin type 9 is cleared from plasma by low-density lipoprotein receptor-independent pathways.Semantic proximity Read ↗

Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage.Semantic proximity Read ↗

PCSK9 Dominant Negative Mutant Results in Increased LDL Catabolic Rate and Familial HypobetalipoproteinemiaSemantic proximity Read ↗

The PCSK9 gene R46L variant is associated with lower plasma lipid levels and cardiovascular risk in healthy U.K. men.Semantic proximity Read ↗

PCSK9 R46L Loss-of-Function Mutation Reduces Lipoprotein(a), LDL Cholesterol, and Risk of Aortic Valve Stenosis.Semantic proximity Read ↗

Novel loss-of-function PCSK9 variant is associated with low plasma LDL cholesterol in a French-Canadian family and with impaired processing and secretion in cell culture.Semantic proximity Read ↗

The loss-of-function PCSK9 p.R46L genetic variant does not alter glucose homeostasis.Semantic proximity Read ↗

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