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

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 fact...

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Udgivet i:PLoS One
Main Authors: Marques, André R. A., Aten, Jan, Ottenhoff, Roelof, van Roomen, Cindy P. A. A., Herrera Moro, Daniela, Claessen, Nike, Vinueza Veloz, María Fernanda, Zhou, Kuikui, Lin, Zhanmin, Mirzaian, Mina, Boot, Rolf G., De Zeeuw, Chris I., Overkleeft, Herman S., Yildiz, Yildiz, Aerts, Johannes M. F. G.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2015
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4537125/
https://ncbi.nlm.nih.gov/pubmed/26275242
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0135889
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