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Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia
SPG15 is a hereditary spastic paraplegia subtype caused by mutations in Spastizin, a protein encoded by the ZFYVE26 gene. Spastizin is involved in autophagosome maturation and autophagic lysosome reformation and SPG15-related mutations lead to autophagic lysosome reformation defects with lysosome en...
Autores principales: | Vantaggiato, Chiara, Orso, Genny, Guarato, Giulia, Brivio, Francesca, Napoli, Barbara, Panzeri, Elena, Masotti, Simona, Santorelli, Filippo Maria, Lamprou, Maria, Gumeni, Sentiljana, Clementi, Emilio, Bassi, Maria Teresa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976989/ https://www.ncbi.nlm.nih.gov/pubmed/36029068 http://dx.doi.org/10.1093/brain/awac308 |
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