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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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Dades bibliogràfiques
Publicat a:Front Neurosci
Autors principals: Allison, Rachel, Edgar, James R., Reid, Evan
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2019
Matèries:
Accés en línia: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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