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

Chen, J., Soni, R. K., Xu, Y., Simoes, S., Liang, F.-X., DeFreitas, L., Hwang, R., Montesinos, J., Lee, J. H., Area-Gomez, E., Nandakumar, R., Vardarajan, B., & Marquer, C. (2023). Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease. EBioMedicine, 92, 104628. https://doi.org/10.1016/j.ebiom.2023.104628
Authors:
Jacinda Chen
Rajesh K. Soni
Yimeng Xu
Sabrina Simoes
Feng‐Xia Liang
Laura DeFreitas
Robert Hwang
Jorge Montesinos
Joseph H. Lee
Estela Area‐Gómez
Renu Nandakumar
Badri N. Vardarajan
Catherine Marquer
Affiliated Authors:
Jacinda Chen
Yimeng Xu
Sabrina Simoes
Laura DeFreitas
Robert Hwang
Jorge Montesinos
Joseph H. Lee
Estela Area‐Gómez
Renu Nandakumar
Badri N. Vardarajan
Catherine Marquer
Author Keywords:
cholesterol
human brain tissue
juvenile cln3 disease
lysosomes
niemann–pick type c disease
proteomics
Publication Type:
Article
Unique ID:
10.1016/j.ebiom.2023.104628
PMID:
Journal:
Publication Date:
Data Source:
OpenAlex

Record Created: