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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Bibliographic Details
Published in:PLoS Genet
Main Authors: Thomas, Ruth E., Vincow, Evelyn S., Merrihew, Gennifer E., MacCoss, Michael J., Davis, Marie Y., Pallanck, Leo J.
Format: Artigo
Language:Inglês
Published: Public Library of Science 2018
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Research Article
Online Access: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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