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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Vydáno v:PLoS One
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2015
Témata:
Research Article
On-line přístup: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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