A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

Dysregulated endoplasmic reticulum stress and phosphorylation of eukaryotic translation initiation factor 2α (eIF2α) are associated with pancreatic β-cell failure and diabetes. Here, we report the first homozygous mutation in the PPP1R15B gene (also known as constitutive repressor of eIF2α phosphory...

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Detalles Bibliográficos
Autores principales: Abdulkarim, Baroj, Nicolino, Marc, Igoillo-Esteve, Mariana, Daures, Mathilde, Romero, Sophie, Philippi, Anne, Senée, Valérie, Lopes, Miguel, Cunha, Daniel A., Harding, Heather P., Derbois, Céline, Bendelac, Nathalie, Hattersley, Andrew T., Eizirik, Décio L., Ron, David, Cnop, Miriam, Julier, Cécile
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Diabetes Association 2015
Materias:
Genetics/Genomes/Proteomics/Metabolomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4713904/
https://www.ncbi.nlm.nih.gov/pubmed/26159176
http://dx.doi.org/10.2337/db15-0477

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