Infancy‐onset diabetes caused by de‐regulated AMPylation of the human endoplasmic reticulum chaperone BiP

Abstract Dysfunction of the endoplasmic reticulum (ER) in insulin‐producing beta cells results in cell loss and diabetes mellitus. Here we report on five individuals from three different consanguineous families with infancy‐onset diabetes mellitus and severe neurodevelopmental delay caused by a homo...

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Bibliografski detalji

Glavni autori:	Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco
Format:	Artigo
Jezik:	Inglês
Izdano:	Springer Nature 2023-01-01
Serija:	EMBO Molecular Medicine
Teme:	diabetes mellitus endoplasmic reticulum chaperone mutation nucleotidyltransferases post‐translational
Online pristup:	https://doi.org/10.15252/emmm.202216491
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