β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration

β-glucocerebrosidase is a lysosomal hydrolase involved in the catabolism of the sphingolipid glucosylceramide. Biallelic loss of function mutations in this enzyme are responsible for the onset of Gaucher disease, while monoallelic β-glucocerebrosidase mutations represent the first genetic risk facto...

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Detalles Bibliográficos
Autores principales: Lunghi, Giulia, Carsana, Emma Veronica, Loberto, Nicoletta, Cioccarelli, Laura, Prioni, Simona, Mauri, Laura, Bassi, Rosaria, Duga, Stefano, Straniero, Letizia, Asselta, Rosanna, Soldà, Giulia, Di Fonzo, Alessio, Frattini, Emanuele, Magni, Manuela, Liessi, Nara, Armirotti, Andrea, Ferrari, Elena, Samarani, Maura, Aureli, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9367513/
https://www.ncbi.nlm.nih.gov/pubmed/35954187
http://dx.doi.org/10.3390/cells11152343

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9367513/
https://www.ncbi.nlm.nih.gov/pubmed/35954187
http://dx.doi.org/10.3390/cells11152343

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