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Article

Glucocerebrosidase mutations and Parkinson disease.

Journal of neural transmission (Vienna, Austria : 1996) - 1 Sept 2022

Vieira Sophia R L, Schapira Anthony H V

Abstract excerpt

The discovery of glucocerebrosidase (GBA1) mutations as the greatest numerical genetic risk factor for the development of Parkinson disease (PD) resulted in a paradigm shift within the research landscape. Efforts to elucidate the mechanisms behind GBA1-associated PD have highlighted shared pathways in idiopathic PD including the loss and gain-of-function hypotheses, endoplasmic reticulum stress, lipid metabolism,...

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Identifiers

PMID: 35932311
DOI: 10.1007/s00702-022-02531-3
PMCID: PMC9463283

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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