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...

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Detalles Bibliográficos
Autores principales: Guiberson, Noah Guy Lewis, Pineda, André, Abramov, Debra, Kharel, Parinati, Carnazza, Kathryn E., Wragg, Rachel T., Dittman, Jeremy S., Burré, Jacqueline
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
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

Internet

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

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