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Article

Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine

27 Dec 2018

Abstract excerpt

Glucocerebrosidase is a lysosomal enzyme. The characterization of a direct link between mutations in the gene coding for glucocerebrosidase (GBA1) with the development of Parkinson's disease and dementia with Lewy bodies has heightened interest in this enzyme. Although the mechanisms through which glucocerebrosidase regulates the homeostasis of α-synuclein remains poorly understood, the identification of reduced...

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PMID: 30589955
DOI: 10.1002/mds.27583

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