Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice

Abstract

The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly reduced GBA activity is associated with severe manifestations of Gaucher disease including neurological involvement. Mutations in the GBA gene have recently also been identified as major genetic risk factor for Parkinsonism. Disturbed metabolism of GlcCer may… (More)
DOI: 10.1371/journal.pone.0135889

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