Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin

The SPAST gene, which produces two isoforms (M1 and M87) of the microtubule-severing protein spastin, is the chief gene mutated in hereditary spastic paraplegia. Haploinsufficiency is a popular explanation for the disease, in part because most of the >200 pathogenic mutations of the gene are trun...

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Detalles Bibliográficos
Autores principales: Solowska, Joanna M., Rao, Anand N., Baas, Peter W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society for Cell Biology 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5491181/
https://www.ncbi.nlm.nih.gov/pubmed/28495799
http://dx.doi.org/10.1091/mbc.E17-01-0047

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5491181/
https://www.ncbi.nlm.nih.gov/pubmed/28495799
http://dx.doi.org/10.1091/mbc.E17-01-0047

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