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Article

The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice.

Brain : a journal of neurology - 1 Oct 2017

Migdalska-Richards Anna, Wegrzynowicz Michal, Rusconi Raffaella, Deangeli Giulio, Di Monte Donato A, Spillantini Maria G, Schapira Anthony H V

Abstract excerpt

Mutations in glucocerebrosidase 1 (GBA1) represent the most prevalent risk factor for Parkinson's disease. The molecular mechanisms underlying the link between GBA1 mutations and Parkinson's disease are incompletely understood. We analysed two aged (24-month-old) Gba1 mouse models, one carrying a knock-out mutation and the other a L444P knock-in mutation. A significant reduction of glucocerebrosidase activity was...

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Source

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Identifiers

PMID: 28969384
DOI: 10.1093/brain/awx221
PMCID: PMC5841155

Genes

GBA1

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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