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Abstract
Mutations in the glucocerebrosidase gene are a major genetic risk factor for Parkinson's disease.
- Dysfunctional glucocerebrosidase leads to the accumulation of glucosylceramide in lysosomes.
- The pathogenic L444P variant alters enzyme structure and activity.
- Impaired clearance of monomeric α-synuclein is associated with glucocerebrosidase dysfunction.
- Investigations suggest that glucocerebrosidase activity may exhibit daily rhythmicity.
- Fixed-time rotarod activity could modulate glucocerebrosidase activity in healthy and Gba1-mutant mice.
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