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Taming molecular flexibility to tackle rare diseases
Many mutations responsible of Fabry disease destabilize lysosomal alpha-galactosidase, but retain the enzymatic activity. These mutations are associated to a milder phenotype and are potentially curable with a pharmacological therapy either with chaperones or with drugs that modulate proteostasis. W...
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| Publicado no: | Biochimie |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Editions Scientifiques Elsevier
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4441037/ https://ncbi.nlm.nih.gov/pubmed/25841341 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.biochi.2015.03.018 |
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