Deregulation of mTORC1-TFEB axis in human iPSC model of -associated Parkinson's disease.

Mutations in the gene are the single most frequent genetic risk factor for Parkinson's disease (PD). Neurodegenerative changes in -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 mutations on the transcription factor EB (TFEB), the master regulator of the autophagy-lysosomal pathway (ALP).