Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject.

International journal of molecular sciences - 7 Feb 2023

Larrea-Sebal Asier, Trenti Chiara, Jebari-Benslaiman Shifa, Bertolini Stefano, Calandra Sebastiano, Negri Emanuele A, Bonelli Efrem, Benito-Vicente Asier, Uraga-Gracianteparaluceta Leire, Martín César, Fasano Tommaso

Abstract excerpt

Familial hypercholesterolaemia (FH) is an autosomal dominant dyslipidaemia, characterised by elevated LDL cholesterol (LDL-C) levels in the blood. Three main genes are involved in FH diagnosis: LDL receptor (LDLr), Apolipoprotein B (APOB) and Protein convertase subtilisin/kexin type 9 (PCSK9) with genetic mutations that led to reduced plasma LDL-C clearance. To date, several PCSK9 gain-of-function (GOF) variants...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cholesterol, LDL
Share to Hyperlipoproteinemia Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutant Proteins

Share to Mutation

Share to Proprotein Convertase 9

Share to Receptors, LDL

Source

Open in PubMed Open full text

Identifiers

PMID: 36834740
DOI: 10.3390/ijms24043330
PMCID: PMC9959173

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject.PMID 36834740Read ↗

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

Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial hypercholesterolemiaSemantic proximity Read ↗

Functional characterization of mutant genes associated with autosomal dominant familial hypercholesterolemia: integration and evolution of genetic diagnosis.Semantic proximity Read ↗

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive SynopsisSemantic proximity Read ↗

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

Recent advances in the understanding and care of familial hypercholesterolaemia: significance of the biology and therapeutic regulation of proprotein convertase subtilisin/kexin type 9.Semantic proximity Read ↗

Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.Semantic proximity Read ↗

New Horizons in the Pathogenesis, Pathophysiology and Treatment of Familial HypercholesterolaemiaSemantic proximity Read ↗

Characterization of novel mutations in the catalytic domain of the PCSK9 gene.Semantic proximity Read ↗

The PCSK9 decade.Semantic proximity Read ↗

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.