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

Rescue of a pathogenic mutant human glucagon receptor by pharmacological chaperones.

Journal of molecular endocrinology - 1 Oct 2012

Yu Run, Chen Chun-Rong, Liu Xiaohong, Kodra János T

Abstract excerpt

We have previously demonstrated that a homozygous inactivating P86S mutation of the glucagon receptor (GCGR) causes a novel human disease of hyperglucagonemia, pancreatic α-cell hyperplasia, and pancreatic neuroendocrine tumors (Mahvash disease). The mechanisms for the decreased activity of the P86S mutant (P86S) are abnormal receptor localization to the endoplasmic reticulum (ER) and defective interaction with...

Read the complete abstract on PubMed

Topics

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

Share to Receptors, Glucagon
Share to Asparagine
Share to Curcumin

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Drug Design

Share to Glucagon

Share to Pyridines

Share to Pyrroles

Share to Thapsigargin

Source

Identifiers

PMID: 22693263
DOI: 10.1530/JME-12-0051

Genes

GCGR

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rescue of a pathogenic mutant human glucagon receptor by pharmacological chaperones.PMID 22693263Read ↗

Characterization of a naturally occurring mutation V368M in the human glucagon receptor and its association with metabolic disorders.Semantic proximity Read ↗

Molecular and in vivo phenotyping of missense variants of the human glucagon receptorSemantic proximity Read ↗

Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.Semantic proximity Read ↗

Pharmacological chaperone approaches for rescuing GPCR mutants: Current state, challenges, and screening strategies.Semantic proximity Read ↗

G protein-coupled receptor trafficking in health and disease: lessons learned to prepare for therapeutic mutant rescue in vivo.Semantic proximity Read ↗

A human glucagon-like peptide-1 receptor polymorphism results in reduced agonist responsiveness.Semantic proximity Read ↗

Pharmacological chaperones for the misfolded melanocortin-4 receptor associated with human obesity.Semantic proximity Read ↗

<i>In vivo</i> functional profiling and structural characterisation of the human <i>Glp1r</i> A316T variantSemantic proximity Read ↗

The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginineSemantic proximity Read ↗

Structurally Based Design of Glucagon Mutants That Inhibit Fibril Formation.Semantic proximity Read ↗

Disruption of glucagon receptor induces single α-cell hypersecretion through upregulation of VGFSemantic proximity Read ↗

Molecular mechanism of action of pharmacoperone rescue of misrouted GPCR mutants: the GnRH receptor.Semantic proximity Read ↗

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