Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease

CLN5 disease (MIM: 256731) represents a rare late-infantile form of neuronal ceroid lipofuscinosis (NCL), caused by mutations in the CLN5 gene that encodes the CLN5 protein (CLN5p), whose physiological roles stay unanswered. No cure is currently available for CLN5 patients and the opportunities for...

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Detalles Bibliográficos
Autores principales: Doccini, Stefano, Marchese, Maria, Morani, Federica, Gammaldi, Nicola, Mero, Serena, Pezzini, Francesco, Soliymani, Rabah, Santi, Melissa, Signore, Giovanni, Ogi, Asahi, Rocchiccioli, Silvia, Kanninen, Katja M., Simonati, Alessandro, Lalowski, Maciej M., Santorelli, Filippo M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9180748/
https://www.ncbi.nlm.nih.gov/pubmed/35681535
http://dx.doi.org/10.3390/cells11111840

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9180748/
https://www.ncbi.nlm.nih.gov/pubmed/35681535
http://dx.doi.org/10.3390/cells11111840

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