Article
[Novel treatments in neurometabolic diseases: the importance of chaperones].
Revista de neurologia - 5 Jun 2018
Perez B
Abstract excerpt
Incorrect protein folding has been related to a number of genetic diseases. In these pathologies, loss and gain of function mutations can cause protein instability, giving rise to alterations in their catalytic properties or in their subcellular location. The literature includes reports of a number of diseases, called conformational diseases, which are produced by mutations that affect folding. Therefore, many...
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