par Lytrivi, Maria 
;Senée, Valérie;Salpea, Paraskevi ;Fantuzzi, Federica ;Philippi, Anne;Abdulkarim, Baroj ;Sawatani, Toshiaki ;Marin Canas, Sandra ;Pachera, Nathalie ;Degavre, Anne;Singh, Pratibha ;Derbois, Céline;Lechner, Doris;Ladrière, Laurence ;Igoillo Esteve, Mariana ;Cosentino, Cristina ;Marselli, Lorella;Deleuze, Jean François;Marchetti, Piero;Eizirik, Decio L. ;Nicolino, Marc;Chaussenot, Annabelle;Julier, Cécile;Cnop, Miriam
Référence European journal of endocrinology, 184, 3, page (455-468)
Publication Publié, 2021-03-01
;Senée, Valérie;Salpea, Paraskevi ;Fantuzzi, Federica ;Philippi, Anne;Abdulkarim, Baroj ;Sawatani, Toshiaki ;Marin Canas, Sandra ;Pachera, Nathalie ;Degavre, Anne;Singh, Pratibha ;Derbois, Céline;Lechner, Doris;Ladrière, Laurence ;Igoillo Esteve, Mariana ;Cosentino, Cristina ;Marselli, Lorella;Deleuze, Jean François;Marchetti, Piero;Eizirik, Decio L. ;Nicolino, Marc;Chaussenot, Annabelle;Julier, Cécile;Cnop, Miriam Référence European journal of endocrinology, 184, 3, page (455-468)
Publication Publié, 2021-03-01
Article révisé par les pairs
| Résumé : | DNAJC3, also known as P58IPK, is an Hsp40 family member that interacts with and inhibits PKR-like ER-localized eIF2α kinase (PERK). Dnajc3 deficiency in mice causes pancreatic β-cell loss and diabetes. Loss-of-function mutations in DNAJC3 cause early-onset diabetes and multisystemic neurodegeneration. The aim of our study was to investigate the genetic cause of early-onset syndromic diabetes in two unrelated patients, and elucidate the mechanisms of β-cell failure in this syndrome. |
