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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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| Publicado no: | Front Neurosci |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6856053/ https://ncbi.nlm.nih.gov/pubmed/31787869 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnins.2019.01179 |
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