A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca(2+) homeostasis and ER-mitochondria interactions

Mostrar otras versiones (1)

Wolfram syndrome (WS) is a progressive neurodegenerative disease characterized by early-onset optic atrophy and diabetes mellitus, which can be associated with more extensive central nervous system and endocrine complications. The majority of patients harbour pathogenic WFS1 mutations, but recessive...

Descripción completa

Detalles Bibliográficos
Autores principales: Rouzier, Cécile, Moore, David, Delorme, Cécile, Lacas-Gervais, Sandra, Ait-El-Mkadem, Samira, Fragaki, Konstantina, Burté, Florence, Serre, Valérie, Bannwarth, Sylvie, Chaussenot, Annabelle, Catala, Martin, Yu-Wai-Man, Patrick, Paquis-Flucklinger, Véronique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411739/
https://www.ncbi.nlm.nih.gov/pubmed/28335035
http://dx.doi.org/10.1093/hmg/ddx060
Mostrar todas las versiones(2)

Ejemplares similares