Repositori institucional de la UVic-UCC

• 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 ...

• 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 ...

• 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 ...

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