Visualitza per autoria "Fernández-Fernández, José Manuel, 1967-"

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  • A genome-wide functional screen identifies enhancer and protective genes for amyloid beta-peptide toxicity
    Picón-Pagès, Pol; Bosch Morató, Mònica, 1986-; Subirana, Laia; Rubio-Moscardó, Francisca; Guivernau Almazán, Biuse, 1988-; Fanlo-Ucar, Hugo; Zeylan, Melisa Ece; Senyuz, Simge; Herrera-Fernández, Víctor; Vicente García, Rubén, 1978-; Fernández-Fernández, José Manuel, 1967-; García Ojalvo, Jordi; Gursoy, Attila; Keskin, Ozlem; Oliva Miguel, Baldomero; Posas Garriga, Francesc; Nadal Clanchet, Eulàlia de; Muñoz López, Francisco José, 1964- (MDPI, 2023)
    Alzheimer's disease (AD) is known to be caused by amyloid β-peptide (Aβ) misfolded into β-sheets, but this knowledge has not yet led to treatments to prevent AD. To identify novel molecular players in Aβ toxicity, we carried ...
  • A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx
    Bahamonde Santos, María Isabel, 1972-; Serra Pascual, Selma A., 1981-; Drechsel, Oliver; Rahman, Rubayte; Marcé-Grau, Anna; Prieto, Marta; Ossowski, Stephan; Macaya, Alfons; Fernández-Fernández, José Manuel, 1967- (Public Library of Science (PLoS), 2015)
    Mutations in the CACNA1A gene, encoding the pore-forming CaV2.1 (P/Q-type) channel α1A subunit, result in heterogeneous human neurological disorders, including familial and sporadic hemiplegic migraine along with episodic ...
  • Adaptive selection drives TRPP3 loss-of-function in an Ethiopian population
    Walsh Capdevila, Sandra, 1991-; Izquierdo Serra, Mercè; Acosta, Sandra; Edo, Albert; Lloret, María; Moret, Roser; Bosch Fusté, Elena; Oliva Miguel, Baldomero; Bertranpetit, Jaume, 1952-; Fernández-Fernández, José Manuel, 1967- (Nature Research, 2020)
    TRPP3 (also called PKD2L1) is a nonselective, cation-permeable channel activated by multiple stimuli, including extracellular pH changes. TRPP3 had been considered a candidate for sour sensor in humans, due to its high ...
  • Arachidonic acid effect on the allosteric gating mechanism of BK (Slo1) channels associated with the β1 subunit
    Martín, Pedro; Moncada, Melisa; Castillo, Karen; Orsi, Federico; Ducca, Gerónimo; Fernández-Fernández, José Manuel, 1967-; González, Carlos; Milesi, Verónica (Elsevier, 2021)
    Arachidonic acid (AA) is a fatty acid involved in the modulation of several ion channels. Previously, we reported that AA activates the high conductance Ca2+- and voltage-dependent K+ channel (BK) in vascular smooth muscle ...
  • Atrial fibrillation in heart failure is associated with high levels of circulating microRNA-199a-5p and 22-5p and a defective regulation of intracellular calcium and cell-to-cell communication
    Garcia-Elias Heras, Anna; Tajes Orduña, Marta; Yañez Bisbe, Laia; Enjuanes Grau, Cristina; Comín Colet, Josep; Serra, Selma A.; Fernández-Fernández, José Manuel, 1967-; Aguilar-Agon, Kathryn W.; Reilly, Svetlana; Martí Almor, Julio; Benito Villabriga, Begoña (MDPI, 2021)
    MicroRNAs (miRNAs) participate in atrial remodeling and atrial fibrillation (AF) promotion. We determined the circulating miRNA profile in patients with AF and heart failure with reduced ejection fraction (HFrEF), and its ...
  • Bradykinin, but not muscarinic, inhibition of M-current in rat sympathetic ganglion neurons involves phospholipase C-β4
    Haley, Jane E.; Abogadie, Fe C.; Fernández-Fernández, José Manuel, 1967-; Dayrell, Mariza; Vallis, Yvonne; Buckley, Noel J.; Brown, David A. (Society for Neuroscience, 2000)
    Rat superior cervical ganglion (SCG) neurons express low-threshold noninactivating M-type potassium channels (I-K(M)), which can be inhibited by activation of M-1 muscarinic receptors (M-1 mAChR) and bradykinin (BK) B-2 ...
  • CACNA1A mutations causing early onset ataxia: profiling clinical, dysmorphic and structural-functional findings
    Martínez Monseny, Antonio Federico; Edo, Albert; Casas Alba, Dídac; Izquierdo Serra, Mercè; Bolasell, Mercè; Conejo, David; Martorell, Loreto; Muchart, Jordi; Carrera, Laura; Ortez, Carlos; Nascimento, Andrés; Oliva Miguel, Baldomero; Fernández-Fernández, José Manuel, 1967-; Serrano Masip, Mercedes (MDPI, 2021)
    The CACNA1A gene encodes the pore-forming α1A subunit of the voltage-gated CaV2.1 Ca2+ channel, essential in neurotransmission, especially in Purkinje cells. Mutations in CACNA1A result in great clinical heterogeneity with ...
  • Cannabis users show enhanced expression of CB1-5HT2A receptor heteromers in olfactory neuroepithelium cells
    Galindo Guarín, Liliana; Moreno, Estefanía; López-Armenta, Fernando; Guinart, Dani; Cuenca Royo, Aida Ma, 1981-; Izquierdo Serra, Mercè; Xicota Vila, Laura, 1987-; Fernandez, Cristina; Menoyo Colomer, Esther; Fernández-Fernández, José Manuel, 1967-; Benítez-King, Gloria; Canela, Enric I.; Casadó, Vicent; Pérez Solá, Victor; Torre Fornell, Rafael de la; Robledo, Patricia, 1958- (Springer, 2018)
    Cannabinoid CB1 receptors (CB1R) and serotonergic 2A receptors (5HT2AR) form heteromers in the brain of mice where they mediate the cognitive deficits produced by delta-9-tetrahydrocannabinol. However, it is still unknown ...
  • Cross talk between β subunits, intracellular Ca2+ signaling, and SNAREs in the modulation of CaV 2.1 channel steady-state inactivation
    Serra Pascual, Selma A., 1981-; Gené, Gemma; Elorza Vidal, Xabier; Fernández-Fernández, José Manuel, 1967- (Wiley, 2018)
    Modulation of CaV 2.1 channel activity plays a key role in interneuronal communication and synaptic plasticity. SNAREs interact with a specific synprint site at the second intracellular loop (LII-III) of the CaV 2.1 ...
  • DYRK1A-mediated phosphorylation of GluN2A at Ser1048 regulates the surface expression and channel activity of GluN1/GluN2A receptors
    Grau, Cristina; Arató, Krisztina, 1981-; Fernández-Fernández, José Manuel, 1967-; Valderrama, Aitana; Sindreu, Carlos; Fillat i Fonts, Cristina; Ferrer, Isidre; Luna, Susana de la; Altafaj, Xavier (Frontiers, 2014)
    N-methyl-D-aspartate glutamate receptors (NMDARs) play a pivotal role in neural development and synaptic plasticity, as well as in neurological disease. Since NMDARs exert their function at the cell surface, their density ...
  • Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review
    Casas Alba, Dídac; López-Sala, Laura; Pérez-Ordóñez, Marta; Mari-Vico, Rosanna; Bolasell, Mercè; Martínez Monseny, Antonio Federico; Muchart, Jordi; Fernández-Fernández, José Manuel, 1967-; Martorell, Loreto; Serrano, Mercedes L. (Wiley, 2021)
    Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND, MIM#604065) is an ultrarare autosomal dominant syndrome related to de novo CACNA1G gain-of-function pathogenic variants. All patients ...
  • Gain-of-function mutation in the KCNMB1 potassium channel subunit is associated with low prevalence of diastolic hypertension
    Fernández-Fernández, José Manuel, 1967-; Tomás Mestres, Marta; Vázquez Gómez, Esther; Orio, Patricio; Latorre, Ramón; Sentí Clapés, Mariano; Marrugat de la Iglesia, Jaume; Valverde, M. A. (Miguel Ángel), 1963- (American Society for Clinical Investigation, 2004)
    Hypertension is the most prevalent risk factor for cardiovascular diseases, present in almost 30% of adults. A key element in the control of vascular tone is the large-conductance, Ca(2+)-dependent K(+) (BK) channel. The ...
  • IP3 sensitizes TRPV4 channel to the mechano- and osmotransducing messenger 5'-6'-epoxyeicosatrienoic acid
    Fernandes, Jacqueline; Lorenzo, Ivan M.; Andrade, Yaniré N.; Garcia-Elias Heras, Anna; Serra Pascual, Selma A., 1981-; Fernández-Fernández, José Manuel, 1967-; Valverde, M. A. (Miguel Ángel), 1963- (Rockefeller University Press, 2008)
    Mechanical and osmotic sensitivity of the transient receptor potential vanilloid 4 (TRPV4) channel depends on phospholipase A(2) (PLA(2)) activation and the subsequent production of the arachidonic acid metabolites, ...
  • KCNE4 suppresses Kv1.3 currents by modulating trafficking, surface expression and channel gating
    Solé, Laura; Roura Ferrer, Meritxell; Pérez Verdaguer, Mireia; Oliveras, Anna; Calvo, Maria; Fernández-Fernández, José Manuel, 1967-; Felipe, Antonio (Company of Biologists, 2009)
    Voltage-dependent potassium channels (Kv) play a crucial role in the activation and proliferation of leukocytes. Kv channels are either homo- or hetero-oligomers. This composition modulates their surface expression and ...
  • Mitostasis, calcium and free radicals in health, aging and neurodegeneration
    Godoy Zeballos, Juan Alejandro, 1959-; Rios, Juvenal A.; Picón-Pagès, Pol; Herrera-Fernández, Víctor; Swaby, Bronte; Crepin, Giulia; Vicente García, Rubén, 1978-; Fernández-Fernández, José Manuel, 1967-; Muñoz López, Francisco José, 1964- (MDPI, 2021)
    Mitochondria play key roles in ATP supply, calcium homeostasis, redox balance control and apoptosis, which in neurons are fundamental for neurotransmission and to allow synaptic plasticity. Their functional integrity is ...
  • omega-Agatoxin IVA blocks nicotinic receptor channels in bovine chromaffin cells
    Granja, Ricardo; Fernández-Fernández, José Manuel, 1967-; Izaguirre, Victor; González García, Carmen; Ceña, Valentin (Elsevier, 1995)
    We have studied the contribution of P-type voltage-dependent Ca2+ channels to both catacholamine (CA) and ATP secretion from bovine chromaffin cells induced by high K+ or nicotine using omega-agatoxin IVA, a selective ...
  • Rare CACNA1A mutations leading to congenital ataxia
    Izquierdo Serra, Mercè; Fernández-Fernández, José Manuel, 1967-; Serrano, Mercedes L. (Springer, 2020)
    Human mutations in the CACNA1A gene that encodes the pore-forming α1A subunit of the voltage-gated CaV2.1 (P/Q-type) Ca2+ channel cause multiple neurological disorders including sporadic and familial hemiplegic migraine, ...
  • RING1B contributes to Ewing sarcoma development by repressing the NaV1.6 sodium channel and the NF-κB pathway, independently of the fusion oncoprotein.
    Hernández-Muñoz, Inmaculada; Figuerola, Elisabeth; Sanchez-Molina, Sara; Rodriguez García, Eva; Fernández Mariño, Ana Isabel, 1984-; Pardo-Pastor, Carlos; Bahamonde Santos, María Isabel, 1972-; Fernández-Fernández, José Manuel, 1967-; García-Domínguez, Daniel J.; Hontecillas-Prieto, Lourdes; Lavarino, Cinzia; Carcaboso, Angel M.; Torres, Carmen de; Tirado, Oscar M.; Alava, Enrique de; Mora, Jaume (Impact Journals, 2016)
    Ewing sarcoma (ES) is an aggressive tumor defined by EWSR1 gene fusions that behave as an oncogene. Here we demonstrate that RING1B is highly expressed in primary ES tumors, and its expression is independent of the fusion ...
  • Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies
    Carreño, Oriel; Corominas, Roser; Serra Pascual, Selma A., 1981-; Sintas, Cèlia; Fernández Castillo, Noelia; Vila Pueyo, Marta; Toma, Claudio; Gené, Gemma; Pons, Roser; Llaneza, Miguel; Sobrido, María Jesús; Grinberg, Daniel; Valverde, M. A. (Miguel Ángel), 1963-; Fernández-Fernández, José Manuel, 1967-; Macaya, Alfons; Cormand, Bru (Wiley, 2013)
    Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness. Mutations in four genes (CACNA1A, ATP1A2, SCN1A and PRRT2) have ...
  • Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy
    Izquierdo Serra, Mercè; Martínez Monseny, Antonio Federico; López, Laura; Carrillo García, Julia, 1993-; Edo, Albert; Ortigoza Escobar, Juan Darío; García, Óscar; Cancho Candela, Ramón; Carrasco Marina, Ma Llanos; Gutiérrez-Solana, Luis González; Cuadras, Daniel; Muchart, Jordi; Montero, Raquel; Artuch, Rafael; Pérez Cerdá, Celia; Pérez, Belén; Pérez Dueñas, Belén; Macaya, Alfons; Fernández-Fernández, José Manuel, 1967-; Serrano, Mercedes L. (MDPI, 2018)
    Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV2.1 ...

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