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Article

Investigating the Impact of the Parkinson's-Associated GBA1 E326K Mutation on β-Glucocerebrosidase Dimerization and Interactome Dynamics Through an In Silico Approach.

International journal of molecular sciences - 24 Oct 2024

Pietrafesa Davide, Casamassa Alessia, Benassi Barbara, Santoro Massimo, Marano Massimo, Consales Claudia, Rosati Jessica, Arcangeli Caterina

Abstract excerpt

Heterozygous mutations or genetic variants in the GBA1 gene, which encodes for the β-glucocerebrosidase (GCase), a lysosomal hydrolase enzyme, may increase the risk of Parkinson's disease (PD) onset. The heterozygous E326K form is one of the most common genetic risk factors for PD worldwide, but, to date, the underlying molecular mechanisms remain unclear. Here, we investigate the effect of the E326K on the...

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PMID: 39518995
DOI: 10.3390/ijms252111443

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