Article

Dissecting the biological impact of <i>GBA1</i> mutations using multi-omics in an isogenic setting

2025-06-15

Abstract excerpt

GBA1 is a risk gene for multiple neurodegenerative diseases, including Lewy Body Dementia and Parkinson’s disease, and biallelic pathogenic variants in the gene result in the lysosomal storage disorder Gaucher disease. GBA1 encodes the enzyme glucocerebrosidase (GCase), and alterations in the gene result in reduced enzymatic activity, which affects lysosome function downstream. Induced pluripotent stem cells (iPS...

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Literature Corpus work: d69538e3-d86b-5038-ade1-2c23ffd09c82
DOI: 10.1101/2025.06.12.656971

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