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Glucocerebrosidase deficiency promotes protein aggregation through dysregulation of extracellular vesicles

Mutations in the glucosylceramidase beta (GBA) gene are strongly associated with neurodegenerative diseases marked by protein aggregation. GBA encodes the lysosomal enzyme glucocerebrosidase, which breaks down glucosylceramide. A common explanation for the link between GBA mutations and protein aggr...

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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: Thomas, Ruth E., Vincow, Evelyn S., Merrihew, Gennifer E., MacCoss, Michael J., Davis, Marie Y., Pallanck, Leo J.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6175534/
https://ncbi.nlm.nih.gov/pubmed/30256786
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007694
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