Article
Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic GBA Mutation Carriers and Patients with GBA-Associated Parkinson's Disease.
Genes - 29 Sept 2021
Usenko Tatiana, Bezrukova Anastasia, Basharova Katerina, Panteleeva Alexandra, Nikolaev Mikhail, Kopytova Alena, Miliukhina Irina, Emelyanov Anton, Zakharova Ekaterina, Pchelina Sofya
Abstract excerpt
Mutations of the GBA gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), are the greatest genetic risk factor for Parkinson's disease (PD) with frequency between 5% and 20% across the world. N370S and L444P are the two most common mutations in the GBA gene. PD carriers of severe mutation L444P in the GBA gene is characterized by the earlier age at onset compared to N370S. Not every carrier of GBA...
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