Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Carlos Romá-Mateo"'
Autor:
Sandra Solaz, Elena Cardenal‐Muñoz, Alicia Muñoz, Simona Giorgi, Federico V. Pallardó, Carlos Romá‐Mateo, José Ángel Aibar
Publikováno v:
Epilepsia Open, Vol 9, Iss 5, Pp 1806-1815 (2024)
Abstract Objectives Dravet syndrome (DS) is a rare form of refractory epilepsy that begins in the first year of life. Approximately 85% of patients have a mutation in the SCN1A gene, which encodes a voltage‐gated sodium channel. The main objective
Externí odkaz:
https://doaj.org/article/c543f2f3de9046249ef6489227c98ab3
Autor:
Joan Vicent Sánchez-Ortí, Patricia Correa-Ghisays, Vicent Balanzá-Martínez, Diego Macías Saint-Gerons, Ester Berenguer-Pascual, Carlos Romá-Mateo, Víctor M. Victor, Jaume Forés-Martos, Constanza San-Martin, Gabriel Selva-Vera, Rafael Tabarés-Seisdedos
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Epigenetic mechanisms contribute to the maintenance of both type 2 diabetes mellitus (T2DM) and psychiatric disorders. Emerging evidence suggests that molecular pathways and neurocognitive performance regulate epigenetic dynamics in these di
Externí odkaz:
https://doaj.org/article/bd804933b90548138b179da027d861a7
Autor:
José Luis García-Giménez, Eva García-López, Salvador Mena-Mollá, Jesús Beltrán-García, Rebeca Osca-Verdegal, Elena Nacher-Sendra, Carmen Aguado-Velasco, Germán Casabó-Vallés, Carlos Romá-Mateo, María Rodriguez-Gimillo, Oreto Antúnez, José Ferreres, Federico V. Pallardó, Nieves Carbonell
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-16 (2023)
Abstract Background As leading contributors to worldwide morbidity and mortality, sepsis and septic shock are considered a major global health concern. Proactive biomarker identification in patients with sepsis suspicion at any time remains a dauntin
Externí odkaz:
https://doaj.org/article/76e3c8c2fdd64797b107d621919c802a
Autor:
Fernando M. Jabato, José Córdoba-Caballero, Elena Rojano, Carlos Romá-Mateo, Pascual Sanz, Belén Pérez, Diana Gallego, Pedro Seoane, Juan A. G. Ranea, James R. Perkins
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract High-throughput gene expression analysis is widely used. However, analysis is not straightforward. Multiple approaches should be applied and methods to combine their results implemented and investigated. We present methodology for the compre
Externí odkaz:
https://doaj.org/article/35510445a6824f5eb37caeaab2b029f1
Autor:
Adelaida M. Celaya, Lourdes Rodríguez-de la Rosa, Jose M. Bermúdez-Muñoz, José M. Zubeldia, Carlos Romá-Mateo, Carlos Avendaño, Federico V. Pallardó, Isabel Varela-Nieto
Publikováno v:
Cells, Vol 10, Iss 7, p 1686 (2021)
Insulin-like growth factor 1 (IGF-1) deficiency is an ultrarare syndromic human sensorineural deafness. Accordingly, IGF-1 is essential for the postnatal maturation of the cochlea and the correct wiring of hearing in mice. Less severe decreases in hu
Externí odkaz:
https://doaj.org/article/08b53422302a442ab55b39d6d311fd5a
Publikováno v:
Antioxidants, Vol 10, Iss 4, p 617 (2021)
Writing an editorial about rare diseases can become a messy subject from the biological perspective [...]
Externí odkaz:
https://doaj.org/article/0036b566e6ae4b17977887d41103e3d3
Autor:
Marta Seco-Cervera, Pilar González-Cabo, Federico V. Pallardó, Carlos Romá-Mateo, José Luis García-Giménez
Publikováno v:
Antioxidants, Vol 9, Iss 12, p 1257 (2020)
The thioredoxin family consists of a small group of redox proteins present in all organisms and composed of thioredoxins (TRXs), glutaredoxins (GLRXs) and peroxiredoxins (PRDXs) which are found in the extracellular fluid, the cytoplasm, the mitochond
Externí odkaz:
https://doaj.org/article/59fa4e5637d4489e944a901ea67f6310
Publikováno v:
Cells, Vol 9, Iss 2, p 358 (2020)
Recent observations related to the structure of the cytoskeleton in neurons and novel cytoskeletal abnormalities involved in the pathophysiology of some neurological diseases are changing our view on the function of the cytoskeletal proteins in the n
Externí odkaz:
https://doaj.org/article/23de09c678ec4fcdbca887fce3b2e7b4
Autor:
Pablo Sánchez-Martín, Madushi Raththagala, Travis M Bridges, Satrio Husodo, Matthew S Gentry, Pascual Sanz, Carlos Romá-Mateo
Publikováno v:
PLoS ONE, Vol 8, Iss 7, p e69523 (2013)
Laforin, encoded by a gene that is mutated in Lafora Disease (LD, OMIM 254780), is a modular protein composed of a carbohydrate-binding module and a dual-specificity phosphatase domain. Laforin is the founding member of the glucan-phosphatase family
Externí odkaz:
https://doaj.org/article/7122f49752f34a8eb9688f8e4986fdbc
Autor:
Vikas V Dukhande, Devin M Rogers, Carlos Romá-Mateo, Jordi Donderis, Alberto Marina, Adam O Taylor, Pascual Sanz, Matthew S Gentry
Publikováno v:
PLoS ONE, Vol 6, Iss 8, p e24040 (2011)
Lafora Disease (LD) is a fatal neurodegenerative epileptic disorder that presents as a neurological deterioration with the accumulation of insoluble, intracellular, hyperphosphorylated carbohydrates called Lafora bodies (LBs). LD is caused by mutatio
Externí odkaz:
https://doaj.org/article/bdc9b1f38fd34510afa2b27da3cb1db0