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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537125/
https://www.ncbi.nlm.nih.gov/pubmed/26275242
http://dx.doi.org/10.1371/journal.pone.0135889

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537125/
https://www.ncbi.nlm.nih.gov/pubmed/26275242
http://dx.doi.org/10.1371/journal.pone.0135889

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