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sp(2)-Iminosugars targeting human lysosomal β-hexosaminidase as pharmacological chaperone candidates for late-onset Tay-Sachs disease

The late-onset form of Tay-Sachs disease displays when the activity levels of human β-hexosaminidase A (HexA) fall below 10% of normal, due to mutations that destabilise the native folded form of the enzyme and impair its trafficking to the lysosome. Competitive inhibitors of HexA can rescue disease...

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Detalles Bibliográficos
Autores principales:	González-Cuesta, Manuel, Herrera-González, Irene, García-Moreno, M. Isabel, Ashmus, Roger A., Vocadlo, David J., García Fernández, José M., Nanba, Eiji, Higaki, Katsumi, Ortiz Mellet, Carmen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Taylor & Francis 2022
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9126592/ https://www.ncbi.nlm.nih.gov/pubmed/35575117 http://dx.doi.org/10.1080/14756366.2022.2073444

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