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GABAAR-PPT1 palmitoylation homeostasis controls synaptic transmission and circuitry oscillation in CLN1 disease

Ge, L.; Tong, J.; Gao, J.; Qi, Y.; Gao, Z.; Liu, Y.; Wang, Q.; Yuan, T.; Ren, M.; Yang, G.; Li, Z.; Li, J.; Sun, H.; Zhao, X.; Li, J.; Leung, Y.-Y.; Mu, Y.; Xu, J.; Lu, C.; Peng, S.

2024-03-29 neuroscience
10.1101/2024.03.26.585929 bioRxiv
Show abstract

CLN1 disease, also called infantile neuronal ceroid lipofuscinosis, is a fatal neurodegenerative disease caused by mutations in the CLN1 gene encoding palmitoyl protein thioesterase 1 (PPT1). To identify depalmitoylation substrate of PPT1 is crucial to understand CLN1 disease. In this study, we found that PPT1 depalmitoylates GABAAR 1 subunit at Cystein-260, while binding to Cystein-165 and -179. Mutations of PPT1 or its GABAAR 1 subunit binding site result in enhanced inhibitory synaptic transmission, strengthened and oscillation but disrupted phase coupling in CA1 region and impaired learning and memory in 1- to 2-months-old PPT1-deficient and Gabra1em1 mice. Our study highlights the critical role of PPT1 in maintaining GABAAR palmitoylation homeostasis and reveals a previously unknown molecular pathway in PPT1 induced diseases.

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