Found: 22

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  • L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1653, doi. 10.1093/brain/awae041
    By:
    • Juliá-Palacios, Natalia;
    • Olivella, Mireia;
    • Bondarenko, Mariya Sigatullina;
    • Ibáñez-Micó, Salvador;
    • Muñoz-Cabello, Beatriz;
    • Alonso-Luengo, Olga;
    • Soto-Insuga, Víctor;
    • García-Navas, Deyanira;
    • Cuesta-Herraiz, Laura;
    • Andreo-Lillo, Patricia;
    • Aguilera-Albesa, Sergio;
    • Hedrera-Fernández, Antonio;
    • Alguacil, Elena González;
    • Sánchez-Carpintero, Rocío;
    • Valle, Fernando Martín del;
    • González, Erika Jiménez;
    • Cabrera, Lourdes Cean;
    • Medina-Rivera, Ines;
    • Perez-Ordoñez, Marta;
    • Colomé, Roser
    Publication type:
    Article

  • Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12656, doi. 10.3390/ijms222312656
    By:
    • Santos-Gómez, Ana;
    • Miguez-Cabello, Federico;
    • Juliá-Palacios, Natalia;
    • García-Navas, Deyanira;
    • Soto-Insuga, Víctor;
    • García-Peñas, Juan J.;
    • Fuentes, Patricia;
    • Ibáñez-Micó, Salvador;
    • Cuesta, Laura;
    • Cancho, Ramón;
    • Andreo-Lillo, Patricia;
    • Gutiérrez-Aguilar, Gema;
    • Alonso-Luengo, Olga;
    • Málaga, Ignacio;
    • Hedrera-Fernández, Antonio;
    • García-Cazorla, Àngels;
    • Soto, David;
    • Olivella, Mireia;
    • Altafaj, Xavier
    Publication type:
    Article

  • The role of Cysteine 6.47 in class A GPCRs.

    Published in:
    BMC Structural Biology, 2013, v. 13, p. 1, doi. 10.1186/1472-6807-13-3
    By:
    • Olivella, Mireia;
    • Caltabiano, Gianluigi;
    • Cordomí, Arnau
    Publication type:
    Article

  • Disruption of the HLA-E/NKG2X axis is associated with uncontrolled HIV infections.

    Published in:
    Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1027855
    By:
    • Romero-Martín, Luis;
    • Duran-Castells, Clara;
    • Olivella, Mireia;
    • Rosás-Umbert, Míriam;
    • Ruiz-Riol, Marta;
    • Sanchez, Jorge;
    • Hartigan-O'Connor, Dennis;
    • Mothe, Beatriz;
    • Olvera, Àlex;
    • Brander, Christian
    Publication type:
    Article

  • l-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy.

    Published in:
    Science Signaling, 2019, v. 12, n. 586, p. N.PAG, doi. 10.1126/scisignal.aaw0936
    By:
    • Soto, David;
    • Olivella, Mireia;
    • Grau, Cristina;
    • Armstrong, Judith;
    • Alcon, Clara;
    • Gasull, Xavier;
    • Santos-Gómez, Ana;
    • Locubiche, Sílvia;
    • de Salazar, Macarena Gómez;
    • García-Díaz, Roberto;
    • Gratacòs-Batlle, Esther;
    • Ramos-Vicente, David;
    • Chu-Van, Emeline;
    • Colsch, Benoit;
    • Fernández-Dueñas, Víctor;
    • Ciruela, Francisco;
    • Bayés, Àlex;
    • Sindreu, Carlos;
    • López-Sala, Anna;
    • García-Cazorla, Àngels
    Publication type:
    Article

  • Mechanisms of CPT1C-Dependent AMPAR Trafficking Enhancement.

    Published in:
    Frontiers in Molecular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnmol.2018.00275
    By:
    • Gratacòs-Batlle, Esther;
    • Olivella, Mireia;
    • Sánchez-Fernández, Nuria;
    • Yefimenko, Natalia;
    • Miguez-Cabello, Federico;
    • Fadó, Rut;
    • Casals, Núria;
    • Gasull, Xavier;
    • Ambrosio, Santiago;
    • Soto, David
    Publication type:
    Article

  • Novel transferrin gene mutations in four new cases of congenital Atransferrinaemia: Functional and diagnostic pathogenicity despite negative bioinformatics.

    Published in:
    British Journal of Haematology, 2024, v. 205, n. 4, p. 1622, doi. 10.1111/bjh.19675
    By:
    • Romero‐Cortadellas, Lídia;
    • Ferrer‐Cortès, Xènia;
    • Calvo‐López, Laura;
    • Olivella, Mireia;
    • Barqué, Anna;
    • Diaz‐de‐Heredia, Cristina;
    • Moser, Katja;
    • Kleine Budde, Ilona;
    • Sanchez, Mayka
    Publication type:
    Article

  • Identification of homologous GluN subunits variants accelerates GRIN variants stratification.

    Published in:
    Frontiers in Cellular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fncel.2022.998719
    By:
    • Santos-Gómez, Ana;
    • García-Recio, Adrián;
    • Miguez-Cabello, Federico;
    • Soto, David;
    • Altafaj, Xavier;
    • Olivella, Mireia
    Publication type:
    Article

  • TMalphaDB and TMbetaDB: web servers to study the structural role of sequence motifs in α-helix and β-barrel domains of membrane proteins.

    Published in:
    BMC Bioinformatics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12859-015-0699-5
    By:
    • Perea, Marc;
    • Lugtenburg, Ivar;
    • Mayol, Eduardo;
    • Cordomí, Arnau;
    • Deupí, Xavier;
    • Pardo, Leonardo;
    • Olivella, Mireia
    Publication type:
    Article

  • Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.

    Published in:
    Annals of Neurology, 2022, v. 92, n. 2, p. 292, doi. 10.1002/ana.26423
    By:
    • Hübschmann, Oya Kuseyri;
    • Juliá‐Palacios, Natalia Alexandra;
    • Olivella, Mireia;
    • Guder, Philipp;
    • Zafeiriou, Dimitrios I.;
    • Horvath, Gabriella;
    • Kulhánek, Jan;
    • Pearson, Toni S.;
    • Kuster, Alice;
    • Cortès‐Saladelafont, Elisenda;
    • Ibáñez, Salvador;
    • García‐Jiménez, Maria Concepción;
    • Honzík, Tomáš;
    • Santer, René;
    • Jeltsch, Kathrin;
    • Garbade, Sven F.;
    • Hoffmann, Georg F.;
    • Opladen, Thomas;
    • García‐Cazorla, Ángeles
    Publication type:
    Article

  • The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 447, doi. 10.1002/jimd.12723
    By:
    • Julia‐Palacios, Natalia Alexandra;
    • Kuseyri Hübschmann, Oya;
    • Olivella, Mireia;
    • Pons, Roser;
    • Horvath, Gabriella;
    • Lücke, Thomas;
    • Fung, Cheuk‐Wing;
    • Wong, Suet‐Na;
    • Cortès‐Saladelafont, Elisenda;
    • Rovira‐Remisa, M. Mar;
    • Yıldız, Yılmaz;
    • Mercimek‐Andrews, Saadet;
    • Assmann, Birgit;
    • Stevanović, Galina;
    • Manti, Filippo;
    • Brennenstuhl, Heiko;
    • Jung‐Klawitter, Sabine;
    • Jeltsch, Kathrin;
    • Sivri, H. Serap;
    • Garbade, Sven F.
    Publication type:
    Article

  • Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 551, doi. 10.1002/jimd.12689
    By:
    • Illescas, Sofía;
    • Diaz‐Osorio, Yaiza;
    • Serradell, Anna;
    • Toro‐Soria, Lucía;
    • Musokhranova, Uliana;
    • Juliá‐Palacios, Natalia;
    • Ribeiro‐Constante, Juliana;
    • Altafaj, Xavier;
    • Olivella, Mireia;
    • O'Callaghan, Mar;
    • Darling, Alejandra;
    • Armstrong, Judith;
    • Artuch, Rafael;
    • García‐Cazorla, Àngels;
    • Oyarzábal, Alfonso
    Publication type:
    Article

  • Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.

    Published in:
    Human Molecular Genetics, 2020, v. 29, n. 24, p. 3859, doi. 10.1093/hmg/ddaa220
    By:
    • Santos-Gómez, Ana;
    • Miguez-Cabello, Federico;
    • García-Recio, Adrián;
    • Locubiche-Serra, Sílvia;
    • García-Díaz, Roberto;
    • Soto-Insuga, Víctor;
    • Guerrero-López, Rosa;
    • Juliá-Palacios, Natalia;
    • Ciruela, Francisco;
    • García-Cazorla, Àngels;
    • Soto, David;
    • Olivella, Mireia;
    • Altafaj, Xavier
    Publication type:
    Article

  • SIRT1 regulates DNA damage signaling through the PP4 phosphatase complex.

    Published in:
    Nucleic Acids Research, 2023, v. 51, n. 13, p. 6754, doi. 10.1093/nar/gkad504
    By:
    • Rasti, George;
    • Becker, Maximilian;
    • Vazquez, Berta N;
    • Espinosa-Alcantud, Maria;
    • Fernández-Duran, Irene;
    • Gámez-García, Andrés;
    • Ianni, Alessandro;
    • Gonzalez, Jessica;
    • Bosch-Presegué, Laia;
    • Marazuela-Duque, Anna;
    • Guitart-Solanes, Anna;
    • Segura-Bayona, Sandra;
    • Bech-Serra, Joan-Josep;
    • Scher, Michael;
    • Serrano, Lourdes;
    • Shankavaram, Uma;
    • Erdjument-Bromage, Hediye;
    • Tempst, Paul;
    • Reinberg, Danny;
    • Olivella, Mireia
    Publication type:
    Article

  • HomolWat: a web server tool to incorporate 'homologous' water molecules into GPCR structures.

    Published in:
    Nucleic Acids Research, 2020, v. 48, n. W1, p. W54, doi. 10.1093/nar/gkaa440
    By:
    • Mayol, Eduardo;
    • García-Recio, Adrián;
    • Tiemann, Johanna K S;
    • Hildebrand, Peter W;
    • Guixà-González, Ramon;
    • Olivella, Mireia;
    • Cordomí, Arnau
    Publication type:
    Article

  • Cover, Volume 42, Issue 1.

    Published in:
    Human Mutation, 2021, v. 42, n. 1, p. i, doi. 10.1002/humu.24161
    By:
    • García‐Recio, Adrián;
    • Santos‐Gómez, Ana;
    • Soto, David;
    • Julia‐Palacios, Natalia;
    • García‐Cazorla, Àngels;
    • Altafaj, Xavier;
    • Olivella, Mireia
    Publication type:
    Article

  • GRIN database: A unified and manually curated repertoire of GRIN variants.

    Published in:
    Human Mutation, 2021, v. 42, n. 1, p. 8, doi. 10.1002/humu.24141
    By:
    • García‐Recio, Adrián;
    • Santos‐Gómez, Ana;
    • Soto, David;
    • Julia‐Palacios, Natalia;
    • García‐Cazorla, Àngels;
    • Altafaj, Xavier;
    • Olivella, Mireia
    Publication type:
    Article

  • GPCR-SAS: A web application for statistical analyses on G protein-coupled receptors sequences.

    Published in:
    PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0199843
    By:
    • Gómez Tamayo, José Carlos;
    • Olivella, Mireia;
    • Ríos, Santiago;
    • Hoogstraat, Marlous;
    • Gonzalez, Angel;
    • Mayol, Eduardo;
    • Deupi, Xavier;
    • Campillo, Mercedes;
    • Cordomí, Arnau
    Publication type:
    Article

  • DIMERBOW: exploring possible GPCR dimer interfaces.

    Published in:
    Bioinformatics, 2020, v. 36, n. 10, p. 3271, doi. 10.1093/bioinformatics/btaa117
    By:
    • García-Recio, Adrián;
    • Navarro, Gemma;
    • Franco, Rafael;
    • Olivella, Mireia;
    • Guixà-González, Ramon;
    • Cordomí, Arnau
    Publication type:
    Article

  • Inter-residue interactions in alpha-helical transmembrane proteins.

    Published in:
    Bioinformatics, 2019, v. 35, n. 15, p. 2578, doi. 10.1093/bioinformatics/bty978
    By:
    • Mayol, Eduardo;
    • Campillo, Mercedes;
    • Cordomí, Arnau;
    • Olivella, Mireia
    Publication type:
    Article

  • Relation between sequence and structure in membrane proteins.

    Published in:
    Bioinformatics, 2013, v. 29, n. 13, p. 1589, doi. 10.1093/bioinformatics/btt249
    By:
    • Olivella, Mireia;
    • Gonzalez, Angel;
    • Pardo, Leonardo;
    • Deupi, Xavier
    Publication type:
    Article

  • Analysis of the interactions of sulfur-containing amino acids in membrane proteins.

    Published in:
    Protein Science: A Publication of the Protein Society, 2016, v. 25, n. 8, p. 1517, doi. 10.1002/pro.2955
    By:
    • Gómez‐Tamayo, José C.;
    • Cordomí, Arnau;
    • Olivella, Mireia;
    • Mayol, Eduardo;
    • Fourmy, Daniel;
    • Pardo, Leonardo
    Publication type:
    Article