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Pathogenic variants of Valosin-containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells
AIM: Mutations in the valosin-containing protein (VCP) gene cause various lethal proteinopathies that mainly include inclusion body myopathy with Paget’s disease of bone and frontotemporal dementia (IBMPFD) and amyotrophic lateral sclerosis (ALS). Different pathological mechanisms have been proposed...
Autores principales: | Ferrari, Veronica, Cristofani, Riccardo, Cicardi, Maria E., Tedesco, Barbara, Crippa, Valeria, Chierichetti, Marta, Casarotto, Elena, Cozzi, Marta, Mina, Francesco, Galbiati, Mariarita, Piccolella, Margherita, Carra, Serena, Vaccari, Thomas, Nalbandian, Angele, Kimonis, Virginia, Fortuna, Tyler R., Pandey, Udai B., Gagliani, Maria C., Cortese, Katia, Rusmini, Paola, Poletti, Angelo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10588520/ https://www.ncbi.nlm.nih.gov/pubmed/35501124 http://dx.doi.org/10.1111/nan.12818 |
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