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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...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: 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
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Springer Nature 2023-01-01
Rangatū:EMBO Molecular Medicine
Ngā marau:
diabetes mellitus
endoplasmic reticulum chaperone
mutation
nucleotidyltransferases
post‐translational
Urunga tuihono:https://doi.org/10.15252/emmm.202216491
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