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...

Descripción completa

Detalles Bibliográficos
Autores principales: Plaud, Clément, Joshi, Vandana, Kajevu, Natallie, Poüs, Christian, Curmi, Patrick A., Burgo, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177001/
https://www.ncbi.nlm.nih.gov/pubmed/30213879
http://dx.doi.org/10.1242/dmm.033704

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177001/
https://www.ncbi.nlm.nih.gov/pubmed/30213879
http://dx.doi.org/10.1242/dmm.033704

Ejemplares similares