Cargando…
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...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Editions Scientifiques Elsevier
2015
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441037/ https://www.ncbi.nlm.nih.gov/pubmed/25841341 http://dx.doi.org/10.1016/j.biochi.2015.03.018 |