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Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its potential implications for Parkinson disease

Gaucher disease, caused by pathological mutations GBA1, encodes the lysosome-resident enzyme glucocerebrosidase, which cleaves glucosylceramide into glucose and ceramide. In Gaucher disease, glucocerebrosidase deficiency leads to lysosomal accumulation of substrate, primarily in cells of the reticul...

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Bibliographische Detailangaben
Veröffentlicht in:Expert Rev Proteomics
Hauptverfasser: Jung, Olive, Patnaik, Samarjit, Marugan, Juan, Sidransky, Ellen, Westbroek, Wendy
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2016
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5381920/
https://ncbi.nlm.nih.gov/pubmed/27098312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/14789450.2016.1174583
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