Protein misfolding diseases: Prospects of pharmacological treatment
| Autor: | Gámez, A., Yuste-Checa, P., Brasil, S., Briso-Montiano, A., Desviat, L. R., Ugarte, M., Pérez-Cerdá, Celia, Pérez, B. |
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| Přispěvatelé: | UAM. Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa (CBM), Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ) |
| Rok vydání: | 2018 |
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| Zdroj: | Biblos-e Archivo: Repositorio Institucional de la UAM Universidad Autónoma de Madrid Biblos-e Archivo. Repositorio Institucional de la UAM instname |
| Popis: | This is the peer reviewed version of the following article: Gámez A, Yuste-Checa P, Brasil S,et al. Protein misfolding diseases: Prospects of pharmacologi-cal treatment. Clin Genet. 2018; 93.3:450–458. which has been published in final form at https://doi.org/10.1111/cge.13088458I. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving. 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). Fondo Investigación Sanitaria, Grant/Award numbers: PI13/01239, PI16/00573; Fundación Isabel Gemio; Fundación Ramón Areces; European Regional Development Fund |
| Databáze: | OpenAIRE |
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