Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload

Abstract excerpt

Abstract Heterozygous mutations of the lysosomal enzyme glucocerebrosidase ( GBA1 ) represent the major genetic risk for Parkinson’s disease (PD), while homozygous GBA1 mutations cause Gaucher disease, a lysosomal storage disorder, which may involve severe neurodegeneration. We have previously demonstrated impaired autophagy and proteasomal degradation pathways and mitochondrial dysfunction in neurons from GBA1...

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