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Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

2 Aug 2025

Abstract excerpt

Bi-allelic pathogenic GBA1 variants cause Gaucher disease (GD), whereas certain heterozygous missense variants increase the risk of Parkinson's disease (PD), although the underlying mechanisms are unclear. Here, we classified GBA1 missense variants using predictive and structural scores, and analysed their associations with enzyme activity, Saposin C (SapC) interaction and PD progression in 639 patients with...

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PMID: 40753162
DOI: 10.1038/s41531-025-01060-6

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