Glucocerebrosidase mutations and synucleinopathies

Toward a model of precision medicine

Fabio Blandini, Roberto Cilia, Silvia Cerri, Gianni Pezzoli, Anthony H.V. Schapira, Stephen Mullin, José L. Lanciego

Research output: Contribution to journalReview article

6 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)9-21
Number of pages13
JournalMovement Disorders
Volume34
Issue number1
DOIs
Publication statusPublished - Jan 1 2019

Fingerprint

Glucosylceramidase
Precision Medicine
Synucleins
Mutation
Lewy Body Disease
Enzymes
Parkinson Disease
Homeostasis
Phenotype
Brain
Therapeutics

Keywords

  • GBA1
  • GCase
  • Lewy bodies
  • Parkinson's disease
  • α-synuclein

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Glucocerebrosidase mutations and synucleinopathies : Toward a model of precision medicine. / Blandini, Fabio; Cilia, Roberto; Cerri, Silvia; Pezzoli, Gianni; Schapira, Anthony H.V.; Mullin, Stephen; Lanciego, José L.

In: Movement Disorders, Vol. 34, No. 1, 01.01.2019, p. 9-21.

Research output: Contribution to journalReview article

Blandini, Fabio ; Cilia, Roberto ; Cerri, Silvia ; Pezzoli, Gianni ; Schapira, Anthony H.V. ; Mullin, Stephen ; Lanciego, José L. / Glucocerebrosidase mutations and synucleinopathies : Toward a model of precision medicine. In: Movement Disorders. 2019 ; Vol. 34, No. 1. pp. 9-21.
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