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Articles, congressos, llibres [1.953]
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Projecte FERTIMANURE [28]
Col·leccions en aquesta comunitat
Enviaments recents
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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. ... -
Missense variants pathogenicity annotation from homologous proteins
(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 ... -
“People as normal as possible”. Analysis of the construction of subjects in materials for the prevention of gender violence among teenagers in Spain
(2023)In educational materials about the reality of gender violence among teenagers, there are many explicit and implicit choices when constructing the subjects. This study analyses how the figures of ... -
The species of Eilema Hübner, [1819] sensu lato present in Europe and North Africa (Lepidoptera: Erebidae: Arctiinae: Lithosiini)
(Zootaxa, 5191 (1), 001–087, 2022)The species of Eilema Hübner, [1819] sensu lato, present in Europe and North Africa, are studied on the basis of morphological characteristics and molecular genetics. Images of adults, genitalia of ... -
“I don’t want to be the Muslim lesbian idol”: experiences of queer women from Muslim backgrounds in Catalonia
(Journal of gender studies, 2025)This paper explores how four queer women from Muslim backgrounds in Catalonia navigate the intersections of gender, sexuality, and faith, challenging dominant narratives that position Muslim backgrounds ... -
Inclusión de chicas jóvenes en el deporte: Rompiendo barreras
(2025)Inclusión de chicas jóvenes en el deporte. Rompiendo barreras es una guía práctica que busca promover la participación de chicas vulnerables y con riesgo de ser excluidas del deporte competitivo. A pesar ... -
Darth Vader en pantuflas: infancia y juego como activadores del espacio doméstico confinado
(La ciudad dentro de casa: Formas de habitar y entender ’lo doméstico’, 2020)