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

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 homozygous p....

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Detalles Bibliográficos
Autores principales: Perera, Luke A, Hattersley, Andrew T, Harding, Heather P, Wakeling, Matthew N, Flanagan, Sarah E, Mohsina, Ibrahim, Raza, Jamal, Gardham, Alice, Ron, David, De Franco, Elisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9994480/
https://www.ncbi.nlm.nih.gov/pubmed/36704923
http://dx.doi.org/10.15252/emmm.202216491

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9994480/
https://www.ncbi.nlm.nih.gov/pubmed/36704923
http://dx.doi.org/10.15252/emmm.202216491

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