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Article

The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation.

Atherosclerosis - 1 May 2010

Noguchi Tohru, Katsuda Shoji, Kawashiri Masa-Aki, Tada Hayato, Nohara Atsushi, Inazu Akihiro, Yamagishi Masakazu, Kobayashi Junji, Mabuchi Hiroshi

Abstract excerpt

OBJECTIVE: Proprotein convertase subtilisin/kexin type 9 (PCSK9) regulates cholesterol trafficking by mediating degradation of cell-surface LDL receptors (LDLR). Gain-of-function PCSK9 mutations are known to increase plasma LDL-C levels. We attempted to find gain-of-function PCSK9 mutations in Ja...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20006333
DOI: 10.1016/j.atherosclerosis.2009.11.018

Genes

PCSK9
LDLR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20006333-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation.PMID 20006333Read ↗

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Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.Semantic proximity Read ↗

Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial HypercholesterolemiaSemantic proximity Read ↗

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