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Browsing Recerca by Subject "575"

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    • Analysis of Nursing Education Curricula in Spain: Integration of Genetic and Genomic Concepts 

      Ramírez Baraldes, Estel·la; Ariza Martin, Katerin; García Gutiérrez, Daniel; García Salido, Cristina (2024)
      The integration of genetics and genomics into nursing practice is essential for addressing genetic pathologies and providing personalized patient care. This study aims to analyze the nursing education ...

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

      Romero Martin, Luis; Duran Castells, Clara; Olivella, Mireia; Rosas-Umbert, Miriam; Ruiz Riol, Marta; Sanchez, Jorge; Hartigan O'Connor, Dennis; Mothe, Beatriz; Olvera, Alex; Brander, Christian (Frontiers in Immunology, 13, 2022)
      The contribution of the HLA-E/NKG2X axis in NK-mediated control of HIV infection remains unclear. We have studied the relationship between HLA-E expression and phenotypical as well as functional ...

    • Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder 

      den Hollander, B.; Veenvliet, A.R.J.; Rothuizen-Lindenschot, M.; Rothuizen-Lindenschot, P.; Peters, G.; Santos Gómez, Ana; Olivella, Mireia; Altafaj, Xavier; Brands, M.M.; Jacobs, B.A.W.; van Karnebeek, C.D. (Molecular Genetics and Metabolism, 138, 107523, 2023)
      Rationale: To date, causal therapy is potentially available for GRIN2B-related neurodevelopmental disorder (NDD) due to loss-of-function (LoF) variants in GRIN2B, resulting in dysfunction of the GluN2B ...

    • Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant 

      Justel, Maria; Jou, Cristina; Sariego-Jamardo, Andrea; Juliá Palacios, Natalia; Ortez, Carlos; Poch, Maria Luisa; Hedrera-Fernandez, Antonio; Gomez-Martin, Hilario; Codina, Anna; Dominguez-Carral, Jana; Muxart, Jordi; Hernández-Laín, Aurelio; Vila-Bedmar, Sara; Zulaica, Miren; Cancho-Candela, Ramon; Castro, Margarita del Carmen; de la Osa-Langreo, Alberto; Pena-Valenceja, Alfonso; Marcos-Vadillo, Elena; Prieto-Matos, Pablo; Pascual-Pascual, Samuel Ignacio; López de Munain, Adolfo; Estevez-Arias, Berta; Musokhranova, Uliana; Olivella, Mireia; Oyarzabal, Alfonso; Jimenez-Mallebrera, Cecilia; Domínguez-González, Cristina; Nascimento, Andrés; García Cazorla, Àngels; Natera de Benito, Daniel (Journal of Medical Genetics, 60 (10), 965-973, 2023)
      Background Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders. TRAPPC11-related LGMD is an autosomal-recessive condition characterised by muscle ...

    • Identification of homologous GluN subunits variants accelerates GRIN variants stratification 

      Santos Gómez, Ana; García Recio, Adrián; Miguez Cabello, Federico; Soto, David; Altafaj, Xavier; Olivella, Mireia (Frontiers in Cellular Neuroscience, 16, 2022)
      The clinical spectrum of GRIN-related neurodevelopmental disorders (GRD) results from gene- and variant-dependent primary alterations of the NMDA receptor, disturbing glutamatergic neurotransmission. ...

    • Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia 

      Hübschmann, Oya Kuseyri; Juliá Palacios, Natalia; Olivella, Mireia; Guder, Philipp; Zafeiriou, Dimitrios I.; Horvath, Gabriella; Kulh Anek, Jan; Pearson, Toni S.; Kuster, Alice; Cortès Saladelafont, Elisenda; Ibáñez-Micó, Salvador; García Jiménez, Maria Concepción; Honzík, Tomaš; Santer, René; Jeltsch, Kathrin; Garbade, Sven F.; Hoffmann, Alexander; Opladen, Thomas; García Cazorla, Àngels (Annals of Neurology, 92 (2), 292-303, 2022)
      Objective Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an inherited neurometabolic disorder with variable clinical course and severity, ranging from infantile epileptic ...

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

      Juliá Palacios, Natalia; Olivella, Mireia; Sigatullina Bondarenko, Mariya; Ibáñez-Micó, Salvador; Muñoz-Cabello, Beatriz; Alonso Luengo, Olga (Brain, 147 (5),1653-1666, 2024)
      GRIN-related disorders are rare developmental encephalopathies with variable manifestations and limited therapeutic options. Here, we present the first non-randomized, open-label, single-arm trial ...

    • Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission 

      Illescas, Sofia; Diaz-Osorio, Yaiza; Serradell, Anna; Toro-Soria, Lucía; Musokhranova, Uliana; Ribeiro Constante, Juliana; Altafaj, Xavier; Olivella, Mireia; O'Callaghan, Mar; Darling, Alejandra; Armstrong, Judith; Artuch, Rafael; García Cazorla, Àngels; Oyarzabal, Alfonso; Juliá Palacios, Natalia (Journal of inherited metabolic disease, 47(3), 551-569, 2024)
      The study of inborn errors of neurotransmission has been mostly focused on monoamine disorders, GABAergic and glycinergic defects. The study of the glutamatergic synapse using the same approach than ...

    • SIRT1 regulates DNA damage signaling through the PP4 phosphatase complex 

      Rasti, George; Becker, Maximilian; Vazquez, Berta N.; Espinosa-Alcantud, Maria; Fernández Duran, Irene; Gámez-García, Andrés; Ianni, Alessandro; González Fernández, Jèssica; Bosch Presegué, Laia; Marazuela Duque, Anna; Guitart Solanes, Anna; Segura Bayona, Sandra; Bech Serra, Joan Josep; Scher, Michael; Serrano, Lourdes; Shankavaram, Uma; Erdjument Bromage, Hedive; Tempst, Paul; Reinberg, Danny; Olivella, Mireia; Stracker, Travis H.; de la Torre, Carolina; Vaquero, Alejandro (Nucleic Acids Research, 51 (13), 6754–6769, 2023)
      The Sirtuin family of NAD+-dependent enzymes plays an important role in maintaining genome stability upon stress. Several mammalian Sirtuins have been linked directly or indirectly to the regulation of ...

    • SIRT7 promotes lung cancer progression by destabilizing the tumor suppressor ARF 

      Kumari, Poonam; Tarighi, Shahriar; Fuchshuber, Eva; Luhan, Li; Fernández Duran, Irene; Wang, Meilin; Ayoson, Joshua; Castelló-García, José Manuel; Gámez-García, Andrés; Espinosa-Alcantud, María; Sreenivasan, Krishnamoorthy; Guenther, Stefan; Olivella, Mireia; Savai, Rajkumar; Yue, Shijing; Vaquero, Alejandro; Braun, Thomas; Ianni, Alessandro (Cell Biology Research in PNAS, 121 (25), e2409269121, 2024)
      Sirtuin 7 (SIRT7) is a member of the mammalian family of nicotinamide adenine dinucleotide (NAD+)-dependent histone/protein deacetylases, known as sirtuins. It acts as a potent oncogene in numerous ...

    • Spermidine Treatment Improves GRIN2B Loss-Of-Function, A Primary Disorder of Glutamatergic Neurotransmission 

      Santos Gómez, Ana; Juliá Palacios, Natalia; Rejano Bosch, A.; Marí Vico, R.; Masana, Mercè; Olivella, Mireia; Altafaj, Xavier; García Cazorla, Àngels; Miguez Cabello, Federico; Soto, David (Journal Inherited Metabolic Disease, 48 (2), e70015, 2025)
      GRIN-related disorders (GRD) developmental and epileptic encephalopathies (DEEs) display a clinical spectrum including developmental delay, hypotonia, intellectual disability, epilepsy, and autistic ...

    • The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency 

      Juliá Palacios, Natalia; Hübschmann, Oya Kuseyri; Olivella, Mireia; Pons, Roser; Horvath, Gabriella; Lücke, Thomas; Cheuk-Wing, Fung; Wong, Suet-Na; Cortès Saladelafont, Elisenda; Rovira Remisa, Mar; Yıldız, Yilmaz; Mercimek-Andrews, Saadet; Assmann, Birgit; Stevanovic, Galina; Manti, Filippo; Brennenstuhl, Heiko; Jung-Klawitter, Sabine; Jeltsch, Kathrin; Serap Sivri, H.; Garbade, Sven F.; García Cazorla, Àngels; Opladen, Thomas (Journal of inherited metabolic disease, 47(3), 447-462, 2024)
      The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical ...

    • The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation 

      Jové Solavera, Daniel; Rámila, Marta; Ferrer-Cortés, Xènia; Olivella, Mireia; Morado, Marta; Hernández-Rodríguez, Inés; Khan, Aneal; Pérez-Montero, Santiago; Hernández-Rodríguez, Inés; Tornador, Cristian; Germing, Ulrich; Gattermann, Norbert; Sanchez, Mayka; Venturi, Verónica (Scientific Reports, 15, 11843, 2025)
      X-linked sideroblastic anemia (XLSA) is a hereditary disorder affecting heme biosynthesis, caused by mutations in the ALAS2 gene, which encodes the erythroid-specific enzyme 5-aminolevulinate synthase. ...