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Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine

Blandini, F; Cilia, R; Cerri, S; Pezzoli, G; Schapira, AHV; Mullin, S; Lanciego, JL; (2019) Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine. Movement Disorders , 34 (1) pp. 9-21. 10.1002/mds.27583.

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Abstract

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 glucocerebrosidase activity in the brains of patients with PD and dementia with Lewy bodies has paved the way for the development of novel therapeutic strategies directed at enhancing glucocerebrosidase activity and reducing α-synuclein burden, thereby slowing down or even preventing neuronal death. Here we reviewed the current literature relating to the mechanisms underlying the cross talk between glucocerebrosidase and α-synuclein, the GBA1 mutation-associated clinical phenotypes, and ongoing therapeutic approaches targeting glucocerebrosidase. © 2018 International Parkinson and Movement Disorder Society.

Type: Article
Title: Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine
Location: United States
DOI: 10.1002/mds.27583
Publisher version: https://doi.org/10.1002/mds.27583
Language: English
Keywords: GBA1, GCase, Lewy bodies, Parkinson's disease, α-synuclein
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical Neuroscience
URI: https://discovery.ucl.ac.uk/id/eprint/10067196
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