N370S‐GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease

Heterozygous mutations in the GBA1 gene, which encodes the lysosomal enzyme β‐glucocerebrosidase‐1, increase the risk of developing Parkinson's disease, although the underlying mechanisms remain unclear. The aim of this study was to explore the impact of the N370S‐GBA1 mutation on cellular homeostasis and vulnerability in a patient‐specific cellular model of PD.

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