Characterization and Rescue of a Pathogenic D63N Mutant Human Glucagon Receptor That Causes a Pancreatic Neuroendocrine Tumor Syndrome (Mahvash disease) Abstract #1256

Introduction: We have previously demonstrated that inactivating glucagon receptor (GCGR) mutations cause a novel hereditary human disease of hyperglucagonemia, pancreatic α cell hyperplasia, and pancreatic neuroendocrine tumor (Mahvash disease). We recently identified a novel missense GCGR mutation, D63N, in a family with Mahvash disease.
Aim(s): To characterize and rescue the D63N mutant GCGR.
Materials and methods: An EGFP-tagged D63N (D63N-EGFP) was expressed in HEK 293 cells.
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Dr. Run Yu
Authors: Yu R, Zhou C, Chen C R

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