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  2. Advances in the development of pharmacological chaperones for the mucopolysaccharidoses

Advances in the development of pharmacological chaperones for the mucopolysaccharidoses Artículos académico

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Resumen

  • The mucopolysaccharidoses (MPS) are a group of 11 lysosomal storage diseases (LSDs) produced by mutations in the enzymes involved in the lysosomal catabolism of glycosaminoglycans. Most of the mutations affecting these enzymes may lead to changes in processing, folding, glycosylation, pH stability, protein aggregation, and defective transport to the lysosomes. It this sense, it has been proposed that the use of small molecules, called pharmacological chaperones (PCs), can restore the folding, trafficking, and biological activity of mutated enzymes. PCs have the advantages of wide tissue distribution, potential oral administration, lower production cost, and fewer issues of immunogenicity than enzyme replacement therapy. In this paper, we will review the advances in the identification and characterization of PCs for the MPS. These molecules have been described for MPS II, IVA, and IVB, showing a mutation-dependent enhancement of the mutated enzymes. Although the results show the potential of this strategy, further studies should focus in the development of disease-specific cellular models that allow a proper screening and evaluation of PCs. In addition, in vivo evaluation, both pre-clinical and clinical, should be performed, before they can become a real therapeutic strategy for the treatment of MPS patients.

autores

  • http://research-hub.urosario.edu.co/ontology/vlocal#ExcludedPerson
    Carlos J. Alméciga-Diaz
  • http://vivoweb.org/ontology/core#FacultyMember
    Edwin Alexander Rodríguez López
  • http://research-hub.urosario.edu.co/ontology/vlocal#ExcludedPerson
    Jacobo Cepeda Del Castillo
  • http://research-hub.urosario.edu.co/ontology/vlocal#ExcludedPerson
    Juan Camilo Losada Díaz

Publicado en

  • International Journal of Molecular Sciences Revistas

fecha de publicación

  • enero 1, 2020

Identidad

Identificador de objeto digital (DOI)

  • https://doi.org/10.3390/ijms21010232

Identificador único PubMed

  • 31905715

Información adicional de documento

Volumen

  • 21

Cuestión

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