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  • 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. ...

  • 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 ...

  • SIRT1 regulates DNA damage signaling through the PP4 phosphatase complex 

    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; 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 ...

  • 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 ...

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