Zobrazeno 1 - 10
of 152
pro vyhledávání: '"José A Sánchez, Alcázar"'
Autor:
David Gómez-Fernández, Ana Romero-González, Juan M. Suárez-Rivero, Paula Cilleros-Holgado, Mónica Álvarez-Córdoba, Rocío Piñero-Pérez, José Manuel Romero-Domínguez, Diana Reche-López, Alejandra López-Cabrera, Salvador Ibáñez-Mico, Marta Castro de Oliveira, Andrés Rodríguez-Sacristán, Susana González-Granero, José Manuel García-Verdugo, José A. Sánchez-Alcázar
Publikováno v:
Antioxidants, Vol 13, Iss 8, p 1023 (2024)
Mutations in the lipoyltransferase 1 (LIPT1) gene are rare inborn errors of metabolism leading to a fatal condition characterized by lipoylation defects of the 2-ketoacid dehydrogenase complexes causing early-onset seizures, psychomotor retardation,
Externí odkaz:
https://doaj.org/article/3e5f8306564c49ea85740f0320439a87
Autor:
Marta Talaverón-Rey, Mónica Álvarez-Córdoba, Irene Villalón-García, Suleva Povea-Cabello, Juan M. Suárez-Rivero, David Gómez-Fernández, Ana Romero-González, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Paula Cilleros-Holgado, Diana Reche-López, Rocío Piñero-Pérez, José A. Sánchez-Alcázar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-23 (2023)
Abstract Background Neurodegeneration with brain iron accumulation (NBIA) disorders are a group of neurodegenerative diseases that have in common the accumulation of iron in the basal nuclei of the brain which are essential components of the extrapyr
Externí odkaz:
https://doaj.org/article/a9c9d7d4ff2e4fdeafccf4fbfe00f6d4
Autor:
Paula Cilleros-Holgado, David Gómez-Fernández, Rocío Piñero-Pérez, José Manuel Romero Domínguez, Marta Talaverón-Rey, Diana Reche-López, Juan Miguel Suárez-Rivero, Mónica Álvarez-Córdoba, Ana Romero-González, Alejandra López-Cabrera, Marta Castro De Oliveira, Andrés Rodríguez-Sacristan, José Antonio Sánchez-Alcázar
Publikováno v:
Biomolecules, Vol 14, Iss 5, p 598 (2024)
Primary mitochondrial diseases result from mutations in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) genes, encoding proteins crucial for mitochondrial structure or function. Given that few disease-specific therapies are available for mitochondria
Externí odkaz:
https://doaj.org/article/563bb89be81045479f82c35d7f3f5fca
Autor:
Irene Villalón-García, Suleva Povea-Cabello, Mónica Álvarez-Córdoba, Marta Talaverón-Rey, Juan M Suárez-Rivero, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Diana Reche-López, Paula Cilleros-Holgado, Rocío Piñero-Pérez, José A Sánchez-Alcázar
Publikováno v:
Neural Regeneration Research, Vol 18, Iss 6, Pp 1196-1202 (2023)
Lipid peroxidation and iron accumulation are closely associated with neurodegenerative diseases, such as Alzheimer’s, Parkinson’s, and Huntington’s diseases, or neurodegeneration with brain iron accumulation disorders. Mitochondrial dysfunction
Externí odkaz:
https://doaj.org/article/6b03972c86ee4badb530ea9449247808
Autor:
Mónica Álvarez-Córdoba, Diana Reche-López, Paula Cilleros-Holgado, Marta Talaverón-Rey, Irene Villalón-García, Suleva Povea-Cabello, Juan M. Suárez-Rivero, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Rocío Piñero-Pérez, José A. Sánchez-Alcázar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)
Abstract Background Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscl
Externí odkaz:
https://doaj.org/article/25dc1fcca1da406d810dd2635ade6c2f
Autor:
Juan M. Suárez-Rivero, Carmen J. Pastor-Maldonado, Suleva Povea-Cabello, Mónica Álvarez-Córdoba, Irene Villalón-García, Marta Talaverón-Rey, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Diana Reche-López, Paula Cilleros-Holgado, Rocío Piñero-Perez, José A. Sánchez-Alcázar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-23 (2022)
Abstract Background Mitochondrial diseases represent one of the most common groups of genetic diseases. With a prevalence greater than 1 in 5000 adults, such diseases still lack effective treatment. Current therapies are purely palliative and, in mos
Externí odkaz:
https://doaj.org/article/36b1121325ae4a249c38c5ee37bf18fa
Autor:
Rocío Piñero-Pérez, Alejandra López-Cabrera, Mónica Álvarez-Córdoba, Paula Cilleros-Holgado, Marta Talaverón-Rey, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, David Gómez-Fernández, Diana Reche-López, Ana Romero-González, José Manuel Romero-Domínguez, Rocío M. de Pablos, José A. Sánchez-Alcázar
Publikováno v:
Antioxidants, Vol 12, Iss 12, p 2023 (2023)
Nemaline myopathy (NM) is one of the most common forms of congenital myopathy and it is identified by the presence of “nemaline bodies” (rods) in muscle fibers by histopathological examination. The most common forms of NM are caused by mutations
Externí odkaz:
https://doaj.org/article/3f35ec582d594ef09dd5ac35e561212f
Autor:
Mónica Álvarez-Córdoba, Marta Talaverón-Rey, Suleva Povea-Cabello, Paula Cilleros-Holgado, David Gómez-Fernández, Rocío Piñero-Pérez, Diana Reche-López, Manuel Munuera-Cabeza, Alejandra Suárez-Carrillo, Ana Romero-González, Jose Manuel Romero-Domínguez, Alejandra López-Cabrera, José Ángel Armengol, José Antonio Sánchez-Alcázar
Publikováno v:
Pharmaceuticals, Vol 16, Iss 10, p 1359 (2023)
The term neurodegeneration with brain iron accumulation (NBIA) brings together a broad set of progressive and disabling neurological genetic disorders in which iron is deposited preferentially in certain areas of the brain. Among NBIA disorders, the
Externí odkaz:
https://doaj.org/article/30fbb85db9794c40803877a8be747a45
Autor:
Alejandra Suárez-Carrillo, Mónica Álvarez-Córdoba, Ana Romero-González, Marta Talaverón-Rey, Suleva Povea-Cabello, Paula Cilleros-Holgado, Rocío Piñero-Pérez, Diana Reche-López, David Gómez-Fernández, José Manuel Romero-Domínguez, Manuel Munuera-Cabeza, Antonio Díaz, Susana González-Granero, José Manuel García-Verdugo, José A. Sánchez-Alcázar
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 19, p 14576 (2023)
Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain. Among NBIA subtypes, β-propeller protein-associated neurodegeneration (BPA
Externí odkaz:
https://doaj.org/article/9219c7aa7c0a4264b7ee2a42d6da8dc4
Autor:
Mónica Álvarez-Córdoba, Marta Talaverón-Rey, Irene Villalón-García, Suleva Povea-Cabello, Juan M. Suárez-Rivero, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Joaquín J. Salas, José A. Sánchez-Alcázar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)
Abstract Background Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic neurological disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, mu
Externí odkaz:
https://doaj.org/article/6bc379513f8b46b78c586b7fa2c6900e