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New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones
Missense mutations in the lysosomal hydrolase β‐galactocerebrosidase (GALC) account for at least 40% of known cases of Krabbe disease (KD). Most of these missense mutations are predicted to disrupt the fold of the enzyme, preventing GALC in sufficient amounts from reaching its site of action in the...
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| Yayımlandı: | J Neurosci Res |
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| Asıl Yazarlar: | , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
John Wiley and Sons Inc.
2016
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5031207/ https://ncbi.nlm.nih.gov/pubmed/27638604 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jnr.23762 |
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