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  • 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 ...

  • 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.; Miguez Cabello, F.; Masana, Mercè; Soto, D.; Olivella, Mireia; García Cazorla, A.; Altafaj, Xavier (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 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. ...

  • Writing Medicine at University 

    UAB. Servei de Llengües; UdG. Servei de Llengües Modernes (2023)

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