Repositori institucional de la UVic-UCC: Recent submissions
Now showing items 101-120 of 7226
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'Yo tuiteo desde el miedo', conceptualización y análisis de las violencias en el ámbito digital: agresiones contra mujeres periodistas en Twitter
(Redes sociales en tiempos de la COVID-19, 2022)Las redes sociales se constituyen como un nuevo espacio social de debate, interacción y activismo en el que las mujeres periodistas tienen un papel destacado. En su vertiente negativa, en estos espacios ... -
Las porteadoras, metáforas delconfín. Una mirada interseccionala los documentales postcoloniales sobre la frontera hispano-marroquí
(Papeles del CEIC, 2022 (2), 266, 2022)Este artículo analiza las representaciones documentales de las porteadoras, trabajadoras transfronterizas en el borde hispano-marroquí. Estas mujeres cruzan la frontera cargando pesados fardos de productos ... -
Imaginarios sobre la violencia escolar, asimetrías de poder e Interseccionalidad en la serie Merlí
(Athenea Digital. Revista de Pensamiento e Investigación Social, 22(3), e3241, 2022)Las violencias en el ámbito escolar, un fenómeno cada vez más extendido, están basadas en la desigualdad y el abuso de poder, y pueden analizarse a través de los imaginarios de las narrativas de ficción. ... -
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
(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
(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
(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
(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
(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
(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
(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 ... -
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission
(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 ... -
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study
(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
(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
(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
(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. ...