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Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease

 

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Opened Access Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease
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Author: Mata, Mario de la
Cotán, David
Oropesa Ávila, Manuel
Garrido Maraver, Juan
Cordero Morales, Mario David
Ortiz Mellet, Carmen
Ybot González, Patricia
García Fernández, José Manuel
Department: Universidad de Sevilla. Departamento de Química orgánica
Date: 2015
Published in: Scientific Reports, 5 (10903), 1-18.
Document type: Article
Abstract: 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 repl...
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Cite: Mata, M.d.l., Cotán, D., Oropesa Ávila, M., Garrido Maraver, J., Cordero Morales, M.D., Ortiz Mellet, C.,...,García Fernández, J.M. (2015). Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease. Scientific Reports, 5 (10903), 1-18.
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Format: PDF

URI: http://hdl.handle.net/11441/61087

DOI: 10.1038/srep10903

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