Article
Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease.
Scientific reports - 5 Jun 2015
de la Mata Mario, Cotán David, Oropesa-Ávila Manuel, Garrido-Maraver Juan, Cordero Mario D, Villanueva Paz Marina, Delgado Pavón Ana, Alcocer-Gómez Elizabet, de Lavera Isabel, Ybot-González Patricia, Paula Zaderenko Ana, Ortiz Mellet Carmen, García Fernández José M, Sánchez-Alcázar José A
Abstract excerpt
Gaucher disease (GD) is caused by mutations in the GBA1 gene, which encodes lysosomal β-glucocerebrosidase. Homozygosity for the L444P mutation in GBA1 is associated with high risk of neurological manifestations which are not improved by enzyme replacement therapy. Alternatively, pharmacological chaperones (PCs) capable of restoring the correct folding and trafficking of the mutant enzyme represent promising...
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