Browsing by Author "Edo, Albert"

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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 ...
  • 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 ...