[Novel treatments in neurometabolic diseases: the importance of chaperones].

[Novel treatments in neurometabolic diseases: the importance of chaperones]. Rev Neurol. 2018 Jun 05;66(s02):S43-S46 Authors: Perez B Abstract 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 pathologies could benefit from treatment with certain drugs such as proteostasis regulators or pharmacologic chaperones. This work describes the potential use of pharmacologic chaperones in several neurometabolic diseases, specifically, in phenylketonuria, in phosphomannomutase deficit and in methylmalonic aciduria type cblB. PMID: 29876912 [PubMed - in process]
Source: Revista de Neurologia - Category: Neurology Authors: Tags: Rev Neurol Source Type: research