The Race to Salvage Glucocerebrosidase: Understanding Small‐Molecule Therapies for GBA1 ‐Associated Parkinsonism

作者：Mark J. Henderson, Tiffany C. Chen, Logan M. Glasstetter, Yu Chen, Juan Marugán, Ellen Sidransky · 发表于：Movement Disorders · 年份：2025 · DOI：10.1002/mds.70168 · 被引用次数：1 · 研究领域：Lysosomal Storage Disorders Research、Glycogen Storage Diseases and Myoclonus、Cellular transport and secretion

Variants in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, cause Gaucher disease and confer an increased risk for parkinsonism. Strategies using small molecules can improve the function of glucocerebrosidase in lysosomes. A clear understanding of the mechanism-of-action of these compounds will facilitate development of GBA1-modulating drugs for Parkinson's disease.