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 (DE) at position 302/303 of TorsinA, a AAA+ ATPase that resides in the endoplasmic reticulum. While the function of TorsinA remains elusive, the DE mutation is known to diminish binding of two Tor...
| Main Authors: | , , , , |
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| Other Authors: | |
| Format: | Article |
| Language: | en_US |
| Published: |
eLife Sciences Publications, Ltd.
2016
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| Online Access: | http://hdl.handle.net/1721.1/105219 https://orcid.org/0000-0002-3866-2742 https://orcid.org/0000-0002-1090-6071 https://orcid.org/0000-0001-8012-1512 |