Functional differences of short and long isoforms of spastin harboring missense mutation

• Ngā kaituhi matua: Clément Plaud (Author), Vandana Joshi (Author), Natallie Kajevu (Author), Christian Poüs (Author), Patrick A. Curmi (Author), Andrea Burgo (Author)
• Hōputu: Pukapuka
• I whakaputaina: The Company of Biologists, 2018-09-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

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...