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Article

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells.

Brain : a journal of neurology - 1 May 2014

McNeill Alisdair, Magalhaes Joana, Shen Chengguo, Chau Kai-Yin, Hughes Derralyn, Mehta Atul, Foltynie Tom, Cooper J Mark, Abramov Andrey Y, Gegg Matthew, Schapira Anthony H V

Abstract excerpt

Gaucher disease is caused by mutations in the glucocerebrosidase gene, which encodes the lysosomal hydrolase glucosylceramidase. Patients with Gaucher disease and heterozygous glucocerebrosidase mutation carriers are at increased risk of developing Parkinson's disease. Indeed, glucocerebrosidase mutations are the most frequent risk factor for Parkinson's disease in the general population. Therefore there is an...

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Identifiers

PMID: 24574503
DOI: 10.1093/brain/awu020
PMCID: PMC3999713

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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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