High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB

Background: In the severe neurodegenerative disorder mucopolysaccharidosis type IIIB (MPSIIIB or Sanfilippo disease type B), deficiency of the lysosomal enzyme N-acetyl-α-glucosaminidase (NAGLU) results in accumulation of heparan sulfate. Patients present with a severe, rapidly progressing phenotype...

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Publicado en:JIMD Rep
Main Authors: Meijer, O. L. M., van den Biggelaar, P., Ofman, R., Wijburg, F. A., van Vlies, N.
Formato: Artigo
Idioma:Inglês
Publicado: Springer Berlin Heidelberg 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5953891/
https://ncbi.nlm.nih.gov/pubmed/28836185
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_51
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