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Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones
Heterozygous de novo mutations in the neuronal protein Munc18-1 are linked to epilepsies, intellectual disability, movement disorders, and neurodegeneration. These devastating diseases have a poor prognosis and no known cure, due to lack of understanding of the underlying disease mechanism. To deter...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162227/ https://www.ncbi.nlm.nih.gov/pubmed/30266908 http://dx.doi.org/10.1038/s41467-018-06507-4 |