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Genome-Wide Association Study of Glucocerebrosidase Activity Modifiers

29 Apr 2025

Abstract excerpt

One of the most common genetic risk factors for Parkinson's disease (PD) is variants in GBA1, which encodes the lysosomal enzyme glucocerebrosidase (GCase). GCase deficiency has been associated with an increased PD risk, but not all individuals with low GCase activity are carriers of GBA1 mutations, suggesting other factors may be acting as modifiers. We aimed to discover common variants associated with GCase...

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PMID: 40299299
DOI: 10.1007/s12035-025-04996-1

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