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...

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2017
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Articles
Online Zugang: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
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