Article

A homozygous p.(Arg371Ser) mutation in <i>FICD</i> de-regulates AMPylation of the human endoplasmic reticulum chaperone BiP causing infancy-onset diabetes and severe neurodevelopmental delay

2022-05-19

Abstract excerpt

<h4>ABSTRACT</h4> Dysfunction of the endoplasmic reticulum (ER) in insulin-producing beta cells results in cell loss and diabetes mellitus. Here we report on 5 individuals from three different consanguineous families with infancy-onset diabetes mellitus and severe neurodevelopmental delay caused by a homozygous p.(Arg371Ser) mutation in FICD . The FICD gene encodes a bifunctional Fic domain-containing enzyme that...

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Literature Corpus work: ebf34fda-45f4-5044-945f-a5a93dcb54f1
DOI: 10.1101/2022.05.14.22275020

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A homozygous p.(Arg371Ser) mutation in <i>FICD</i> de-regulates AMPylation of the human endoplasmic reticulum chaperone BiP causing infancy-onset diabetes and severe neurodevelopmental delayDOI 10.1101/2022.05.14.22275020Read

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