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Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency

2 Aug 2022

Abstract excerpt

Mutations in HNF1A cause Maturity Onset Diabetes of the Young (HNF1A-MODY). To understand mechanisms of β-cell dysfunction, we generated stem cell-derived pancreatic endocrine cells with hypomorphic mutations in HNF1A. HNF1A-deficient β-cells display impaired basal and glucose stimulated-insulin secretion, reduced intracellular calcium levels in association with a reduction in CACNA1A expression, and accumulation...

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PMID: 35918471
DOI: 10.1038/s42003-022-03696-z

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