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Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases

Opened Access Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases

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Autor: Sánchez Fernández, Elena Matilde
García Fernández, José Manuel
Ortiz Mellet, Carmen
Departamento: Universidad de Sevilla. Departamento de Química orgánica
Fecha: 2016
Publicado en: Chemical Communications, 52 (32), 5497-5515.
Tipo de documento: Artículo
Resumen: Lysosomal storage disorders (LSDs) are often caused by mutations that destabilize native folding and impair the trafficking of enzymes, leading to premature endoplasmic reticulum (ER)-associated degradation, deficiencies of specific hydrolytic functions and aberrant storage of metabolites in the lysosomes. Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) are available for a few of these conditions, but most remain orphan. A main difficulty is that virtually all LSDs involve neurological decline and neither proteins nor the current SRT drugs can cross the blood–brain barrier. Twenty years ago a new therapeutic paradigm better suited for neuropathic LSDs was launched, namely pharmacological chaperone (PC) therapy. PCs are small molecules capable of binding to the mutant protein at the ER, inducing proper folding, restoring trafficking and increasing enzyme activity and substrate processing in the lysosome. In many LSDs the mutated protein is a glycosidase and the a...
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Cita: Sánchez Fernández, E.M., García Fernández, J.M. y Ortiz Mellet, C. (2016). Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases. Chemical Communications, 52 (32), 5497-5515.
Tamaño: 3.866Mb
Formato: PDF

URI: http://hdl.handle.net/11441/64316

DOI: 10.1039/C6CC01564F

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