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Article

Glucocerebrosidase deficiency leads to neuropathology via cellular immune activation.

PLoS genetics - 1 Nov 2024

Vincow Evelyn S, Thomas Ruth E, Milstein Gillian, Pareek Gautam, Bammler Theo K, MacDonald James, Pallanck Leo J

Abstract excerpt

Mutations in GBA (glucosylceramidase beta), which encodes the lysosomal enzyme glucocerebrosidase (GCase), are the strongest genetic risk factor for the neurodegenerative disorders Parkinson's disease (PD) and Lewy body dementia. Recent work has suggested that neuroinflammation may be an important factor in the risk conferred by GBA mutations. We therefore systematically tested the contributions of immune-related...

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Identifiers

PMID: 39527642
DOI: 10.1371/journal.pgen.1011105
PMCID: PMC11581407

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