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Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes

9 Nov 2018

Abstract excerpt

Insulin gene mutations are a leading cause of neonatal diabetes. They can lead to proinsulin misfolding and its retention in endoplasmic reticulum (ER). This results in increased ER-stress suggested to trigger beta-cell apoptosis. In humans, the mechanisms underlying beta-cell failure remain unclear. Here we show that misfolded proinsulin impairs developing beta-cell proliferation without increasing apoptosis. We...

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PMID: 30412052
DOI: 10.7554/elife.38519

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