Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function

The hereditary spastic paraplegias (HSPs) are genetic motor neuron diseases characterized by progressive degeneration of corticospinal tract axons. Mutations in SPAST, encoding the microtubule-severing ATPase spastin, are the most common causes of HSP. The broad SPAST mutational spectrum indicates a...

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Detalles Bibliográficos
Autores principales: Allison, Rachel, Edgar, James R., Reid, Evan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856053/
https://www.ncbi.nlm.nih.gov/pubmed/31787869
http://dx.doi.org/10.3389/fnins.2019.01179

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856053/
https://www.ncbi.nlm.nih.gov/pubmed/31787869
http://dx.doi.org/10.3389/fnins.2019.01179

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