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Article

Protein misfolding diseases: Prospects of pharmacological treatment.

Clinical genetics - 1 Mar 2018

Gámez A, Yuste-Checa P, Brasil S, Briso-Montiano Á, Desviat L R, Ugarte M, Pérez-Cerdá C, Pérez B

Abstract excerpt

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,...

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Identifiers

PMID: 28671287
DOI: 10.1111/cge.13088

Genes

PMM2

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