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Article

A genome-wide screen identifies that PLCG2 restrains lysosomal GCase activity.

Proceedings of the National Academy of Sciences of the United States of America - 7 Jul 2026

Lawrence Jessica, Kulkarni Vineet Vinay, Tan Chan Lek, Callow Marinella, Juste Yves, Sangaraju Dewakar, Costa Mike, Bingol Baris

Abstract excerpt

Mutations in the GBA1 gene, which encodes the lysosomal glucocerebrosidase enzyme GCase, cause the lysosomal storage disorder Gaucher disease and represent the most common genetic risk factor for Parkinson's disease (PD). These mutations deplete lysosomal GCase activity and cause accumulation of GCase substrate, glucosylceramide, and its pathological metabolite, glucosylsphingosine. Impaired GCase activity then...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42384678
DOI: 10.1073/pnas.2514112123
PMCID: PMC13343006

Genes

PLCG2
GBA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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