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Neurologic disorders associated with mutations in ganglioside synthases. Schematic illustration of the relationship between ganglioside synthesis and mutations in the St3gal5 and B4galnt1 genes found in infantile-onset symptomatic epilepsy syndrome [31] and spastic paraplegia [32]. Ganglioside GM2 is degraded to GM3 by lysosomal hexosaminidases in concert with GM2 activator protein (GM2AP) (encoded by Gm2a) in lysosomes.
