GM1 gangliosidosis is a neurodegenerative disorder caused by mutations in the GLB1
gene, which encodes lysosomal β-galactosidase. The enzyme deficiency blocks GM1
ganglioside catabolism, leading to accumulation of GM1 ganglioside and asialo-GM1
ganglioside (GA1 glycolipid) in brain. This disease can present in varying degrees of
severity, with the level of residual β-galactosidase activity primarily determining the clinical
course. Glb1 null mouse models, which completely lack β-galactosidase expression, exhibit …