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Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease

BACKGROUND: The most common form of neuronal ceroid lipofuscinosis (NCL) is juvenile CLN3 disease (JNCL), a currently incurable neurodegenerative disorder caused by mutations in the CLN3 gene. Based on our previous work and on the premise that CLN3 affects the trafficking of the cation-independent m...

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Detalles Bibliográficos
Autores principales: Chen, Jacinda, Soni, Rajesh Kumar, Xu, Yimeng, Simoes, Sabrina, Liang, Feng-Xia, DeFreitas, Laura, Hwang, Robert, Montesinos, Jorge, Lee, Joseph H., Area-Gomez, Estela, Nandakumar, Renu, Vardarajan, Badri, Marquer, Catherine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10227369/
https://www.ncbi.nlm.nih.gov/pubmed/37245481
http://dx.doi.org/10.1016/j.ebiom.2023.104628

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