Functional differences of short and long isoforms of spastin harboring missense mutation
Mutations of the SPG4 (SPAST) gene encoding for spastin protein are the main causes of hereditary spastic paraplegia. Spastin binds to microtubules and severs them through the enzymatic activity of its AAA domain. Several missense mutations located in this domain lead to stable, nonsevering spastins...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
The Company of Biologists
2018-09-01
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| Series: | Disease Models & Mechanisms |
| Subjects: | |
| Online Access: | http://dmm.biologists.org/content/11/9/dmm033704 |