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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. ...

  • Missense variants pathogenicity annotation from homologous proteins 

    Ruiz Alías, Gabriel; Soldevila Gálvez, Sergi; Altafaj, Xavier; Cordomí Montoya, Arnau; Olivella, Mireia (Bioinformatics, 41(5), btaf305, 2025)
    fraction linked to disease. The effect of missense variants, which alter the protein sequence, is particularly challenging to interpret due to the scarcity of clinical annotations and experimental ...

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