Protein misfolding diseases: Prospects of pharmacological treatment

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. Misf...

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Bibliographic Details
Published in:Clinical genetics 2018-03, Vol.93 (3), p.450-458
Main Authors: Gámez, A., Yuste‐Checa, P., Brasil, S., Briso‐Montiano, Á., Desviat, L.R., Ugarte, M., Pérez‐Cerdá, C., Pérez, B.
Format: Article
Language:English
Subjects:
Animals
Chaperones
Clinical Trials as Topic
conformational diseases
congenital disorders of glycosylation
Drug Discovery
Drug therapy
Genetic disorders
Genetic Predisposition to Disease
Glycosylation
Glycosylation - drug effects
Hereditary diseases
Humans
inborn errors of metabolism
misfolding diseases
Mitochondria
Mutation
pharmacological chaperones
Phosphomannomutase
Protein folding
Proteostasis Deficiencies - diagnosis
Proteostasis Deficiencies - drug therapy
Proteostasis Deficiencies - etiology
Proteostasis Deficiencies - metabolism
proteostasis regulators
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Summary: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).
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13088