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Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

Gaucher disease (GD) is characterized by accumulation of glucosylceramide in lysosomes due to mutations in the GBA1 gene encoding the lysosomal hydrolase β-glucocerebrosidase (GCase). The disease has a broad spectrum of phenotypes, which were divided into three different Types; Type 1 GD is not asso...

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Bibliografske podrobnosti
Main Authors: Bendikov-Bar, Inna, Maor, Gali, Filocamo, Mirella, Horowitz, Mia
Format: Artigo
Jezik:Inglês
Izdano: Academic Press 2013
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3547170/
https://ncbi.nlm.nih.gov/pubmed/23158495
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcmd.2012.10.007
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