Article
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2022
Straniero Letizia, Rimoldi Valeria, Monfrini Edoardo, Bonvegna Salvatore, Melistaccio Giada, Lake Julie, Soldà Giulia, Aureli Massimo, Shankaracharya, Keagle Pamela, Foroud Tatiana, Landers John E, Blauwendraat Cornelis, Zecchinelli Anna, Cilia Roberto, Di Fonzo Alessio, Pezzoli Gianni, Duga Stefano, Asselta Rosanna
Abstract excerpt
BACKGROUND: To date, variants in the GBA gene represent the most frequent large-effect genetic factor associated with Parkinson's disease (PD). However, the reason why individuals with the same GBA variant may or may not develop neurodegeneration and PD is still unclear. OBJECTIVES: Therefore, we evaluated the contribution of rare variants in genes responsible for lysosomal storage disorders (LSDs) to GBA-PD...
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