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

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...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Hum Mol Genet
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2017
Предметы:
Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5411739/
https://ncbi.nlm.nih.gov/pubmed/28335035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx060
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы