Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic <i>DNAJC3</i> Variants

Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic <i>DNAJC3</i> Variants

The BiP co-chaperone DNAJC3 protects cells during ER stress. In mice, the deficiency of DNAJC3 leads to beta-cell apoptosis and the gradual onset of hyperglycemia. In humans, biallelic <i>DNAJC3</i> variants cause a multisystem disease, including early-onset diabetes mellitus. Recently,...

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Bibliographic Details
Main Authors: Alena Welters, Oliver Nortmann, Laura Wörmeyer, Clemens Freiberg, Daniel Eberhard, Nadine Bachmann, Carsten Bergmann, Ertan Mayatepek, Thomas Meissner, Sebastian Kummer
Format: Article
Language:English
Published: MDPI AG 2024-01-01
Series:International Journal of Molecular Sciences
Subjects:
hyperinsulinemic hypoglycemia
endoplasmic reticulum stress
calcium leak
intracellular calcium homeostasis
monogenic diabetes
BiP/GRP78 co-chaperone
Online Access:https://www.mdpi.com/1422-0067/25/2/1270

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