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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Autores principales:	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
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Springer Nature 2023-01-01
Colección:	EMBO Molecular Medicine
Materias:	diabetes mellitus endoplasmic reticulum chaperone mutation nucleotidyltransferases post‐translational
Acceso en línea:	https://doi.org/10.15252/emmm.202216491
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