
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)
Keywords: Glucosylceramide; Spastic paraplegia; Cerebellar ataxia; Miglustat; GBA2; Enzyme activity; SPG46; Cer; ceramide; GBA; glucocerebrosidase; GBA2; β-glucosidase 2; Glc; glucose; GlcCer; glucosylceramide; NB-DGJ; N-butyldeoxygalactonojirimycin; NB-DNJ; N-but