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...
| Main Authors: | , , |
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| Format: | Online |
| Language: | English |
| Published: |
Editions Scientifiques Elsevier
2015
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441037/ |