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Article

DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes

22 Jan 2021

Abstract excerpt

OBJECTIVE: DNAJC3, also known as P58IPK, is an Hsp40 family member that interacts with and inhibits PKR-like ER-localized eIF2α kinase (PERK). Dnajc3 deficiency in mice causes pancreatic β-cell loss and diabetes. Loss-of-function mutations in DNAJC3 cause early-onset diabetes and multisystemic neurodegeneration. The aim of our study was to investigate the genetic cause of early-onset syndromic diabetes in two...

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PMID: 33486469
DOI: 10.1530/eje-20-0636

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