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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 P...

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Source

Identifiers

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

Genes

GCGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22693263-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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