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Targeted stabilization of Munc18‐1 function via pharmacological chaperones
Heterozygous de novo mutations in the neuronal protein Munc18‐1 cause syndromic neurological symptoms, including severe epilepsy, intellectual disability, developmental delay, ataxia, and tremor. No disease‐modifying therapy exists to treat these disorders, and while chemical chaperones have been sh...
Sparad:
| I publikationen: | EMBO Mol Med |
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| Huvudupphovsmän: | , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
John Wiley and Sons Inc.
2020
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7799358/ https://ncbi.nlm.nih.gov/pubmed/33332765 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.202012354 |
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