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

Archive ouverte | Lytrivi, Maria | CCSD

International audience. 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-cel...

Mutations and variants of ONECUT1 in diabetes

Archive ouverte | Philippi, Anne | CCSD

International audience. Genes involved in distinct diabetes types suggest shared disease mechanisms. Here we show that One Cut Homeobox 1 (ONECUT1) mutations cause monogenic recessive syndromic diabetes in two unrel...

A ONECUT1 regulatory, non-coding region in pancreatic development and diabetes

Archive ouverte | Merz, Sarah | CCSD

International audience. In a patient with permanent neonatal syndromic diabetes clinically similar to cases with ONECUT1 biallelic mutations, we identified a disease-causing deletion located upstream of ONECUT1. Thr...

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