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A Common PD-Risk <i>GBA1</i> Variant Disrupts LIMP2 Interaction, Impairs Glucocerebrosidase Function, and Drives Lysosomal and Mitochondrial Dysfunction

2025-09-02

Abstract excerpt

<h4>Summary</h4> Variants in GBA1 cause Gaucher disease (GD), a lysosomal storage disorder, and represent the most common genetic risk factor for Parkinson’s disease (PD). While some GBA1 variants are associated with both GD and PD, several coding mutations, including E326K, specifically confer risk for developing PD. It is established that GD-linked variants in β-glucocerebrosidase (GCase), the enzyme encoded...

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Literature Corpus work
3d1e38bc-5198-5d6f-a082-84132c7cddd1
DOI
10.1101/2025.08.28.672891
Open publication

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A Common PD-Risk <i>GBA1</i> Variant Disrupts LIMP2 Interaction, Impairs Glucocerebrosidase Function, and Drives Lysosomal and Mitochondrial DysfunctionDOI 10.1101/2025.08.28.672891
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