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Article

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.

Annals of neurology - 1 Sept 2012

Gegg Matthew E, Burke Derek, Heales Simon J R, Cooper J Mark, Hardy John, Wood Nicholas W, Schapira Anthony H V

Abstract excerpt

OBJECTIVE: Mutations in the glucocerebrosidase gene (GBA) represent a significant risk factor for developing Parkinson disease (PD). We investigated the enzymatic activity of glucocerebrosidase (GCase) in PD brains carrying heterozygote GBA mutations (PD+GBA) and sporadic PD brains. METHODS: GCase activity was measured using a fluorescent assay in cerebellum, frontal cortex, putamen, amygdala, and substantia...

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Identifiers

PMID: 23034917
DOI: 10.1002/ana.23614
PMCID: PMC3638323

Genes

EBP
PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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