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
Series:Neurobiology of Disease
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Online Access:http://www.sciencedirect.com/science/article/pii/S0969996125001068
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