Sökresultat - "Sánchez-Alcázar, José A."

A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study

Pereira, Alessandra, Fischinger Moura de Souza, Carolina, Álvarez-Córdoba, Mónica, Reche-López, Diana, Sánchez-Alcázar, José Antonio^{Aff3, IDs1302302403453x_cor5}

The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution

Ozcelik, Firat, Dundar, Mehmet Sait, Yildirim, A. Baki, Henehan, Gary, Vicente, Oscar, Sánchez-Alcázar, José A., Gokce, Nuriye, Yildirim, Duygu T., Bingol, Nurdeniz Nalbant, Karanfilska, Dijana Plaseska, Bertelli, Matteo, Pojskic, Lejla, Ercan, Mehmet, Kellermayer, Miklos, Sahin, Izem Olcay, Greiner-Tollersrud, Ole K., Tan, Busra, Martin, Donald, Marks, Robert, Prakash, Satya, Yakubi, Mustafa, Beccari, Tommaso, Lal, Ratnesh, Temel, Sehime G.^{Aff6, Aff17, Aff18}, Fournier, Isabelle, Ergoren, M. Cerkez, Mechler, Adam, Salzet, Michel, Maffia, Michele, Danalev, Dancho, Sun, Qun, Nei, Lembit, Matulis, Daumantas, Tapaloaga, Dana, Janecke, Andres^{Aff28, Aff29}, Bown, James, Cruz, Karla Santa, Radecka, Iza, Ozturk, Celal, Nalbantoglu, Ozkan Ufuk, Sag, Sebnem Ozemri, Ko, Kisung, Arngrimsson, Reynir, Belo, Isabel, Akalin, Hilal^{Aff1, IDs10142024014179_cor45}, Dundar, Munis^{Aff1, IDs10142024014179_cor46}

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Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels

Talaverón-Rey, Marta, Álvarez-Córdoba, Mónica, Villalón-García, Irene, Povea-Cabello, Suleva, Suárez-Rivero, Juan M., Gómez-Fernández, David, Romero-González, Ana, Suárez-Carrillo, Alejandra, Munuera-Cabeza, Manuel, Cilleros-Holgado, Paula, Reche-López, Diana, Piñero-Pérez, Rocío, Sánchez-Alcázar, José A.^{Aff1, IDs13023023026875_cor13}

Fluorinated Chaperone−β-Cyclodextrin Formulations for β‑Glucocerebrosidase Activity Enhancement in Neuronopathic Gaucher Disease

García-Moreno, M. Isabel^aff1, de la Mata, Mario^aff2, Sánchez-Fernández, Elena M.^aff1, Benito, Juan M.^aff3, Díaz-Quintana, Antonio^aff3, Fustero, Santos^{aff5, aff6}, Nanba, Eiji^aff4, Higaki, Katsumi^aff4, Sánchez-Alcázar, José A.^aff2, García Fernández, José M.^aff3, Ortiz Mellet, Carmen^aff1

Vitamin E prevents lipid peroxidation and iron accumulation in PLA2G6-Associated Neurodegeneration

Villalón-García, Irene, Álvarez-Córdoba, Mónica, Povea-Cabello, Suleva, Talaverón-Rey, Marta, Villanueva-Paz, Marina, Luzón-Hidalgo, Raquel, Suárez-Rivero, Juan M., Suárez-Carrillo, Alejandra, Munuera-Cabeza, Manuel, Salas, Joaquín J., Falcón-Moya, Rafael, Rodríguez-Moreno, Antonio, Armengol, José A., Sánchez-Alcázar, José A.

EGFR-targeting antitumor therapy: Neuregulins or antibodies?

de Lavera, Isabel, Merkling, Patrick J., Oliva, José M., Sayagués, María J., Cotán, David, Sánchez-Alcázar, José A., Infante, Juan J., Zaderenko, Ana P.

UPR^mt activation improves pathological alterations in cellular models of mitochondrial diseases

Suárez-Rivero, Juan M., Pastor-Maldonado, Carmen J., Povea-Cabello, Suleva, Álvarez-Córdoba, Mónica, Villalón-García, Irene, Talaverón-Rey, Marta, Suárez-Carrillo, Alejandra, Munuera-Cabeza, Manuel, Reche-López, Diana, Cilleros-Holgado, Paula, Piñero-Perez, Rocío, Sánchez-Alcázar, José A.^{Aff1, Aff2, IDs13023022023318_cor12}

Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels

Álvarez-Córdoba, Mónica, Reche-López, Diana, Cilleros-Holgado, Paula, Talaverón-Rey, Marta, Villalón-García, Irene, Povea-Cabello, Suleva, Suárez-Rivero, Juan M., Suárez-Carrillo, Alejandra, Munuera-Cabeza, Manuel, Piñero-Pérez, Rocío, Sánchez-Alcázar, José A.^{Aff1, IDs13023022024659_cor11}

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Parkin-mediated mitophagy and autophagy flux disruption in cellular models of MERRF syndrome

Villanueva-Paz, Marina, Povea-Cabello, Suleva, Villalón-García, Irene, Álvarez-Córdoba, Mónica, Suárez-Rivero, Juan M., Talaverón-Rey, Marta, Jackson, Sandra, Falcón-Moya, Rafael, Rodríguez-Moreno, Antonio, Sánchez-Alcázar, José A.

The MELAS mutation m.3243A>G alters the expression of mitochondrial tRNA fragments

Meseguer, Salvador, Navarro-González, Carmen, Panadero, Joaquin, Villarroya, Magda, Boutoual, Rachid, Sánchez-Alcázar, Jose Antonio, Armengod, M.-Eugenia

Pathophysiological characterization of MERRF patient-specific induced neurons generated by direct reprogramming

Villanueva-Paz, Marina, Povea-Cabello, Suleva, Villalón-García, Irene, Suárez-Rivero, Juan M., Álvarez-Córdoba, Mónica, de la Mata, Mario, Talaverón-Rey, Marta, Jackson, Sandra, Sánchez-Alcázar, José A.

Intracellular cholesterol accumulation and coenzyme Q10 deficiency in Familial Hypercholesterolemia

Suárez-Rivero, Juan M., de la Mata, Mario, Pavón, Ana Delgado, Villanueva-Paz, Marina, Povea-Cabello, Suleva, Cotán, David, Álvarez-Córdoba, Mónica, Villalón-García, Irene, Ybot-González, Patricia, Salas, Joaquín J., Muñiz, Ovidio, Cordero, Mario D., Sánchez-Alcázar, José A.

Autophagic dysfunction in patients with Papillon-Lefèvre syndrome is restored by recombinant cathepsin C treatment

Bullón, Pedro, Castejón-Vega, Beatriz, Román-Malo, Lourdes, Jimenez-Guerrero, María Paz, Cotán, David, Forbes-Hernandez, Tamara Y., Varela-López, Alfonso, Pérez-Pulido, Antonio J., Giampieri, Francesca, Quiles, José L., Battino, Maurizio, Sánchez-Alcázar, José A., Cordero, Mario D.

Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives

Álvarez-Córdoba, Mónica^{Aff1, Aff2}, Talaverón-Rey, Marta^{Aff1, Aff2}, Villalón-García, Irene^{Aff1, Aff2}, Povea-Cabello, Suleva^{Aff1, Aff2}, Suárez-Rivero, Juan M.^{Aff1, Aff2}, Suárez-Carrillo, Alejandra^{Aff1, Aff2}, Munuera-Cabeza, Manuel^{Aff1, Aff2}, Salas, Joaquín J., Sánchez-Alcázar, José A.^{Aff1, Aff2}

Antidepressants induce autophagy dependent-NLRP3-inflammasome inhibition in Major depressive disorder

Alcocer-Gómez, Elísabet, Casas-Barquero, Nieves, Williams, Matthew R., Romero-Guillena, Samuel L., Cañadas-Lozano, Diego, Bullón, Pedro, Sánchez-Alcazar, José Antonio, Navarro-Pando, José M., Cordero, Mario D.

A Multi-Target Pharmacological Correction of a Lipoyltransferase LIPT1 Gene Mutation in Patient-Derived Cellular Models.

Gómez-Fernández, David, Romero-González, Ana, Suárez-Rivero, Juan M., Cilleros-Holgado, Paula, Álvarez-Córdoba, Mónica, Piñero-Pérez, Rocío, Romero-Domínguez, José Manuel, Reche-López, Diana, López-Cabrera, Alejandra, Ibáñez-Mico, Salvador, Castro de Oliveira, Marta, Rodríguez-Sacristán, Andrés, González-Granero, Susana, García-Verdugo, José Manuel, Sánchez-Alcázar, José A.