Article
Structural and dynamics insights into the GBA variants associated with Parkinson's disease.
Journal of biomolecular structure & dynamics - 1 Aug 2024
Mahmood Arif, Samad Abdus, Bano Shazia, Umair Muhammad, Ajmal Amar, Ilyas Iqra, Shah Abid Ali, Li Ping, Hu Junjian
Abstract excerpt
The GBA1 gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which maintains glycosphingolipid homeostasis and regulates the autophagy process. Genomic variants of GBA1 are associated with Goucher disease; however, several heterozygous variants of GBA (E326K, T369M, N370S, L444P) are frequent high-risk factors for Parkinson's disease (PD). The underlying mechanism of these variants has been revealed...
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