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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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Pubblicato in:J Neurosci Res
Autori principali: Spratley, Samantha J., Deane, Janet E.
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2016
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Accesso online: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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