Pharmacological Chaperones and Coenzyme Q(10) Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease

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 cha...

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Detalles Bibliográficos
Autores principales: 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, Fernández, José M. García, Sánchez-Alcázar, José A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4456666/
https://www.ncbi.nlm.nih.gov/pubmed/26045184
http://dx.doi.org/10.1038/srep10903

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