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IER3IP1 Mutations Cause Neonatal Diabetes Due to Impaired Proinsulin Trafficking

23 Oct 2024

Abstract excerpt

Immediate early response 3 interacting protein 1 (IER3IP1) is an endoplasmic reticulum (ER) resident protein, highly expressed in pancreatic cells and the developing brain cortex. Homozygous mutations in IER3IP1 have been found in individuals with microcephaly and neonatal diabetes, yet the underlying mechanism causing β-cell failure remains unclear. Here, we used differentiation of genome-edited stem cells into...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39441964
DOI: 10.2337/db24-0119

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