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OROPESA ÁVILA , Manuel

Last name: OROPESA ÁVILA

First name: Manuel

June 7, 2017 (v1)

Publication

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

Mata, Mario de la Cotán, David Oropesa Ávila, Manuel

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...

Uploaded on: March 27, 2023
February 27, 2015 (v1)

Publication

Metadata-only

Apoptotic microtubules delimit an active caspase free area in the cellular cortex during the execution phase of apoptosis.

Mata Fernández, Mario de la Sánchez Alcázar, José Antonio Miguel Rodríguez, Manuel de

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Uploaded on: December 5, 2022