Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation

Mutations in the WFS1 gene, encoding wolframin (WFS1), cause endoplasmic reticulum (ER) stress and are associated with a rare autosomal-recessive disorder known as Wolfram syndrome (WS). WS is clinically characterized by childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus...

Descripción completa

Detalles Bibliográficos
Autores principales: Panfili, Eleonora, Mondanelli, Giada, Orabona, Ciriana, Belladonna, Maria L, Gargaro, Marco, Fallarino, Francesca, Orecchini, Elena, Prontera, Paolo, Proietti, Elisa, Frontino, Giulio, Tirelli, Eva, Iacono, Alberta, Vacca, Carmine, Puccetti, Paolo, Grohmann, Ursula, Esposito, Susanna, Pallotta, Maria T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8091036/
https://www.ncbi.nlm.nih.gov/pubmed/33693650
http://dx.doi.org/10.1093/hmg/ddab040

Ejemplares similares

Ejemplares similares