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High Throughput Screening for Small Molecule Therapy for Gaucher Disease Using Patient Tissue as the Source of Mutant Glucocerebrosidase

Gaucher disease (GD), the most common lysosomal storage disorder, results from the inherited deficiency of the lysosomal enzyme glucocerebrosidase (GCase). Previously, wildtype GCase was used for high throughput screening (HTS) of large collections of compounds to identify small molecule chaperones...

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Detalhes bibliográficos
Main Authors: Goldin, Ehud, Zheng, Wei, Motabar, Omid, Southall, Noel, Choi, Jae Hyuk, Marugan, Juan, Austin, Christopher P., Sidransky, Ellen
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3260169/
https://ncbi.nlm.nih.gov/pubmed/22272254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0029861
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