Article
Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.
The international journal of biochemistry & cell biology - 1 Sept 2014
Serra-Vinardell Jenny, Díaz Lucía, Gutiérrez-de Terán Hugo, Sánchez-Ollé Gessamí, Bujons Jordi, Michelakakis Helen, Mavridou Irene, Aerts Johannes M F G, Delgado Antonio, Grinberg Daniel, Vilageliu Lluïsa, Casas Josefina
Abstract excerpt
Gaucher disease is an autosomal recessive lysosomal disorder characterized by the accumulation of glucosylceramide as a result of a deficiency of the enzyme glucocerebrosidase. Several competitive glucocerebrosidase inhibitors are able to act as pharmacological chaperones for an efficient rescue of the mutated, misfolded forms of the enzyme. Along this line, we report in this work on the ability of several...
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