Browsing by Author "Macaya, Alfons"

Sort by: Order: Results:

  • 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 ...
  • eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics
    Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas, Francesc; Rabionet, Raquel; Bezdan, Daniela; Domènech Salgado, Laura, 1989-; Hor, Hyun; Schott, Jean-Jacques; Munell, Francina; Colobran, Roger; Macaya, Alfons; Estivill, Xavier, 1955-; Ossowski, Stephan (Wiley, 2019)
    Mendelian diseases have shown to be an and efficient model for connecting genotypes to phenotypes and for elucidating the function of genes. Whole-exome sequencing (WES) accelerated the study of rare Mendelian diseases in ...
  • Fusion of the human gene for the polyubiquitination co-effector UEV-1 with Kua, a newly identified gene
    Thomson, Timothy M.; Lozano, Juan José; Loukili, Noureddine; Carrió, Roberto; Serras Rigalt, Florenci; Cormand, Bru; Valeri, Marta; Díaz, Víctor M.; Abril Ferrando, Josep Francesc; Burset Albareda, Moisès; Merino, Jesús; Macaya, Alfons; Corominas Guiu, Montserrat; Guigó Serra, Roderic (Cold Spring Harbor Laboratory Press-CSHL Press, 2000)
    UEV proteins are enzymatically inactive variants of the E2 ubiquitin-conjugating enzymes that regulate noncanonical elongation of ubiquitin chains. In Saccharomyces cerevisiae, UEV is part of the RAD6-mediated error-free ...
  • Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
    Sintas, Cèlia; Carreño, Oriel; Fernández Castillo, Noelia; Corominas, Roser; Vila Pueyo, Marta; Toma, Claudio; Cuenca-León, Ester; Barroeta, Isabel; Roig, Carles; Volpini, Victor; Macaya, Alfons; Cormand, Bru (Nature Publishing Group, 2017)
    Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it ...
  • Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1
    Urbizu, Aintzane; Garrett, Melanie E.; Soldano, Karen; Drechsel, Oliver; Loth, Dorothy; Marcé-Grau, Anna; Mestres Soler, Olga; Poca, María A.; Ossowski, Stephan; Macaya, Alfons; Loth, Francis; Labuda, Rick; Ashley-Koch, Allison (Public Library of Science (PLoS), 2021)
    Chiari Malformation Type 1 (CM-1) is characterized by herniation of the cerebellar tonsils below the foramen magnum and the presence of headaches and other neurologic symptoms. Cranial bone constriction is suspected to be ...
  • 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 ...