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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
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

Internet

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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