Rethinking HNF1A-MODY: HNF1A at the crossroads of development and multiorgan metabolic disease
Open Access
- 22 April 2026
- journal article
- review article
- Published by Cold Spring Harbor Laboratory in Genes & Development
- Vol. 40 (11-12) , 777-779
Abstract
In this issue of Genes & Development , Unger and colleagues (doi:10.1101/gad.353153.125) combined human pluripotent stem cell-derived in vitro models with targeted in vivo mouse models to reveal multiple developmental defects triggered by HNF1A mutations causing maturity-onset diabetes of the young. This work paints the picture of a disorder that starts well before diabetes manifests, highlighting its complexity arising from the diverse roles of HNF1A across distinct cell types, each potentially differentially impacted by different mutations.Keywords
This publication has 10 references indexed in Scilit:
- Defective HNF1A hinders GLI3 processing favoring duodenal versus pancreatic fate, thus leading to intestinal elongation in vivoGenes & Development, 2026
- An insulin hypersecretion phenotype precedes pancreatic β cell failure in MODY3 patient-specific cellsCell Stem Cell, 2022
- Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiencyCommunications Biology, 2022
- Clinical Characteristics of Patients With HNF1-alpha MODY: A Literature Review and Retrospective Chart ReviewFrontiers in Endocrinology, 2022
- An HNF1α truncation associated with maturity-onset diabetes of the young impairs pancreatic progenitor differentiation by antagonizing HNF1β functionCell Reports, 2022
- Decreased GLUT2 and glucose uptake contribute to insulin secretion defects in MODY3/HNF1A hiPSC-derived mutant β cellsNature Communications, 2021
- A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY PathogenesisThe Protein Journal, 2021
- Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1ACell Stem Cell, 2019
- Reversal of diabetes with insulin-producing cells derived in vitro from human pluripotent stem cellsNature Biotechnology, 2014
- Incretin Effect and Glucagon Responses to Oral and Intravenous Glucose in Patients With Maturity-Onset Diabetes of the Young—Type 2 and Type 3Diabetes, 2014