Protein misfolding diseases: Prospects of pharmacological treatment |
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| Authors: | A. Gámez P. Yuste‐Checa S. Brasil Á. Briso‐Montiano L.R. Desviat M. Ugarte C. Pérez‐Cerdá B. Pérez |
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| Affiliation: | Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular‐SO UAM‐CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid/Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Sanitaria IdiPAZ, Madrid, Spain |
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| 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 congenital disorder of glycosylation (CDG) due to phosphomannomutase 2 deficiency (PMM2‐CDG). |
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| Keywords: | conformational diseases congenital disorders of glycosylation inborn errors of metabolism misfolding diseases pharmacological chaperones protein folding proteostasis regulators |
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