Targeted stabilization of Munc18‐1 function via pharmacological chaperones
Abstract 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 hav...
שמור ב:
| Principais autores: | , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Springer Nature
2020-12-01
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| סדרה: | EMBO Molecular Medicine |
| נושאים: | |
| גישה מקוונת: | https://doi.org/10.15252/emmm.202012354 |
| תגים: |
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