Defective anterograde protein-trafficking contributes to endoplasmic reticulum-stress in a CLN1 disease model
Lysosomal storage disorders (LSDs) represent 70 inherited metabolic diseases, in most of which neurodegeneration is a devastating manifestation. The CLN1 disease is a fatal neurodegenerative LSD, caused by inactivating mutations in the CLN1 gene encoding palmitoyl-protein thioesterase-1 (PPT1). S-pa...
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| Main Authors: | Nisha Plavelil, Abhilash P. Appu, K.C. Gopal, Avisek Mondal, Neil Perkins, Anil B. Mukherjee |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-06-01
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| Series: | Neurobiology of Disease |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0969996125001068 |
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