Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine.
作者： Silvia Cerri , Gianni Pezzoli , Anthony H.V. Schapira , Stephen Mullin , José L. Lanciego
DOI: 10.1002/MDS.27583
关键词:
摘要: Glucocerebrosidase is a lysosomal enzyme. The characterization of direct link between mutations in the gene coding for glucocerebrosidase (GBA1) with development Parkinson's disease and dementia Lewy bodies has heightened interest this Although mechanisms through which regulates homeostasis α-synuclein remains poorly understood, identification reduced activity brains patients PD paved way novel therapeutic strategies directed at enhancing reducing burden, thereby slowing down or even preventing neuronal death. Here we reviewed current literature relating to underlying cross talk α-synuclein, GBA1 mutation-associated clinical phenotypes, ongoing approaches targeting glucocerebrosidase. © 2018 International Parkinson Movement Disorder Society.
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