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Protein misfolding diseases: Prospects of pharmacological treatment
Author(s) -
Gámez A.,
YusteCheca P.,
Brasil S.,
BrisoMontiano Á.,
Desviat L.R.,
Ugarte M.,
PérezCerdá C.,
Pérez B.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13088
Subject(s) - proteostasis , biology , protein folding , loss function , mutation , function (biology) , gain of function , genetics , microbiology and biotechnology , phenotype , gene
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 ).