Ontology highlight
ABSTRACT:
SUBMITTER: Marques AR
PROVIDER: S-EPMC4537125 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Marques André R A AR Aten Jan J Ottenhoff Roelof R van Roomen Cindy P A A CP Herrera Moro Daniela D Claessen Nike N Vinueza Veloz María Fernanda MF Zhou Kuikui K Lin Zhanmin Z Mirzaian Mina M Boot Rolf G RG De Zeeuw Chris I CI Overkleeft Herman S HS Yildiz Yildiz Y Aerts Johannes M F G JM
PloS one 20150814 8
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 therefore play a role in neuropathology. Besides lysosomal GBA, cells also contain a non-lysosomal glucosylceramidase (GBA2). Given that the two ...[more]