Protein misfolding diseases: Prospects of pharmacological treatment.

@article{Gmez2018ProteinMD,
  title={Protein misfolding diseases: Prospects of pharmacological treatment.},
  author={Alejandra G{\'a}mez and Patricia Yuste-Checa and Sandra Alves Brasil and {\'A}lvaro Briso-Montiano and Lourdes R Desviat and Magdalena Ugarte and Celia P{\'e}rez-Cerd{\'a} and Bel{\'e}n P{\'e}rez},
  journal={Clinical genetics},
  year={2018},
  volume={93 3},
  pages={
          450-458
        }
}
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… CONTINUE READING

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