Article
The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene.
Journal of integrative neuroscience - 16 Jan 2024
Usenko Tatiana S, Timofeeva Alla, Beletskaia Mariia, Basharova Katerina, Baydakova Galina, Bezrukova Anastasia, Grunina Maria, Emelyanov Anton, Miliukhina Irina, Zakharova Ekaterina, Pchelina Sofya
Abstract excerpt
BACKGROUND: Mutations in the glucocerebrosidase (GBA1) and leucine-rich repeat kinase 2 (LRRK2) genes, encoding lysosomal enzyme glucocerebrosidase (GCase) and leucine-rich repeat kinase 2 (LRRK2), respectively, are the most common related to Parkinson's disease (PD). Recent data suggest a possible functional interaction between GCase and LRRK2 and their involvement in sphingolipid metabolism. The aim of the...
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