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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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| Publicat a: | Hum Mol Genet |
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| Autors principals: | , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2017
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| Matèries: | |
| Accés en línia: | 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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