Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones
Munc18-1 is an evolutionary conserved gene whose mutations are linked to various neurological diseases in human. In order to better understand the exact nature of the mutations, the authors here utilize several model systems to show mutant Munc18-1 can aggregate and deplete functional pool of Wt pro...
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| Autores principales: | , , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Nature Portfolio
2018
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/46814a5c07da4b2497e97fb3a489c145 |
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| Sumario: | Munc18-1 is an evolutionary conserved gene whose mutations are linked to various neurological diseases in human. In order to better understand the exact nature of the mutations, the authors here utilize several model systems to show mutant Munc18-1 can aggregate and deplete functional pool of Wt protein, and that chemical chaperones can reverse the cellular deficits. |
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