Browsing by Author "Izquierdo Serra, Mercè"

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  • 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 ...
  • 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 ...
  • 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, ...
  • 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 ...
  • Structural determinants of 5′,6′-epoxyeicosatrienoic acid binding to and activation of TRPV4 channel
    Berna Erro, Alejandro; Izquierdo Serra, Mercè; Sepúlveda, Romina V.; Rubio Moscardó, Fanny; Doñate-Macián, Pau; Serra Pascual, Selma A., 1981-; Carrillo García, Julia, 1993-; Perálvarez Marín, Alex; González Nilo, Fernando; Fernández-Fernández, José Manuel, 1967-; Valverde, M. A. (Miguel Ángel), 1963- (Nature Publishing Group, 2017)
    TRPV4 cation channel activation by cytochrome P450-mediated derivatives of arachidonic acid (AA), epoxyeicosatrienoic acids (EETs), constitute a major mechanisms of endothelium-derived vasodilatation. Besides, TRPV4 ...