Protein misfolding diseases: prospects of pharmacological treatment.

Protein misfolding diseases: prospects of pharmacological treatment.
Clin Genet. 2017 Jul 03;:
Authors: Gámez A, Yuste-Checa P, Brasil S, Briso-Montiano Á, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B
Abstract
Protein misfolding has been linked to numerous inherited diseases. Loss- and gain-of-function mutations (common features of genetic diseases) may cause the destabilization of proteins, leading to alterations in their properties and/or cellular location, resulting in their incorrect functioning. Misfolded proteins can, however, be rescued via the use of proteostasis regulators and/or pharmacological chaperones, suggesting that treatments with small molecules might be developed for a range of genetic diseases. This work describes the potential of these small molecules in this respect, including for the treatment of PMM2-CDG.
PMID: 28671287 [PubMed - as supplied by publisher]

Source: Clinical Genetics - July 3, 2017 Category: Genetics & Stem Cells Authors: Gámez A, Yuste-Checa P, Brasil S, Briso-Montiano Á, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B Tags: Clin Genet Source Type: research