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Article

Deregulation of mTORC1-TFEB axis in human iPSC model of GBA1-associated Parkinson’s disease

2 Jun 2023

Abstract excerpt

Mutations in the GBA1 gene are the single most frequent genetic risk factor for Parkinson’s disease (PD). Neurodegenerative changes in GBA1-associated PD have been linked to the defective lysosomal clearance of autophagic substrates and aggregate-prone proteins. To elucidate novel mechanisms contributing to proteinopathy in PD, we investigated the effect of GBA1 mutations on the transcription factor EB (TFEB),...

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PMID: 37332877
DOI: 10.3389/fnins.2023.1152503

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