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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Detalles Bibliográficos
Autores principales: Cubellis, Maria Vittoria, Baaden, Marc, Andreotti, Giuseppina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Editions Scientifiques Elsevier 2015
Materias:
Research Paper
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

Internet

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

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