Article

Permanent Neonatal diabetes-causing Insulin mutations have dominant negative effects on beta cell identity

2023-09-05

Abstract excerpt

Heterozygous coding sequence mutations of the INS gene are a cause of permanent neonatal diabetes (PNDM) that results from beta cell failure. We explored the causes of beta cell failure in two PNDM patients with two distinct INS mutations. Using b and mutated hESCs, we detected accumulation of misfolded proinsulin and impaired proinsulin processing in vitro , and a dominant-negative effect of these mutations on...

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Literature Corpus work: 1bfb1d8e-d292-5dd2-b6ba-2b4993532d79
DOI: 10.1101/2023.09.01.555839

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