Genomic studies of neudegeneration in Parkinson’s disease associated with glucocerebrosodase dysfunction on cell and animals models
S. N. Pchelina,
A. I. Bezrukova,
M. M. Rudenok
et al.
Abstract:Mutations in the glucocerebrosidase gene (GBA1), which encodes the lysosomal enzyme glucocerebrosidase (GCase), can cause Gaucher disease, an autosomal recessive disease, and increase the risk of Parkinson’s disease (PD). The risk of developing PD for carriers of homozygous and heterozygous GBA1 mutations increases by 8–10 times, but not all carriers develop PD during their lifetime. Additionally, GBA-associated PD (GBA-PD) represents 10 to 30% of all forms of parkinsonism. The development mechanism of GBA-PD … Show more
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