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Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia
The most common cause of early onset primary dystonia, a neuromuscular disease, is a glutamate deletion (ΔE) at position 302/303 of TorsinA, a AAA+ ATPase that resides in the endoplasmic reticulum. While the function of TorsinA remains elusive, the ΔE mutation is known to diminish binding of two Tor...
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| Опубликовано в: : | eLife |
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| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
eLife Sciences Publications, Ltd
2016
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4999309/ https://ncbi.nlm.nih.gov/pubmed/27490483 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.17983 |
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