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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....
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
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 |
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