Preethi Sheshadri

This study shows that targeting lysosomal pH with rapamycin or acidic nanoparticles restores mitochondrial function in GBA1-mutant Parkinson's disease neurons.

This study identifies EPG5 mutations causing neurodegeneration via mitochondrial dysfunction and innate immune activation in patient-derived cells.

This study generates hiPSC-derived myofibres with the m.3243A>G mutation to model mitochondrial disease, showing metabolic and physiological changes related to mutation load.

A mouse model with impaired mitochondrial pyruvate import shows neuronal hyperexcitability and seizures despite reduced oxidative phosphorylation.