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MATA , Mario De La

Last name: MATA

First name: Mario De La

February 8, 2023 (v1)

Publication

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Coenzyme Q(10) Therapy

Garrido-Maraver, Juan Cordero, Mario D. Oropesa-Ávila, Manuel

For a number of years, coenzyme Q 10 (CoQ 10 ) was known for its key role in mitochondrial bioenergetics; later studies demonstrated its presence in other subcellular fractions and in blood plasma, and extensively investigated its antioxidant role. These 2 functions constitute the basis for supporting the clinical use of CoQ 10 . Also, at the...

Uploaded on: March 1, 2023
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