CCM2-Artigos (em revistas ou actas indexadas)
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Percorrer CCM2-Artigos (em revistas ou actas indexadas) por Objetivos de Desenvolvimento Sustentável (ODS) "04:Educação de Qualidade"
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- 2024 Annual meeting of the international network on ectopic calcification (INTEC)—abstract proceedingsPublication . Cancela, M. Leonor; Alouane, Ahmed; Bertelli, Pietro M.; Camacho, Antonio; Derudder, Robbe; Forlino, Antonella; Harris, Matthew P.; Jacinto, Marta; Lengyel, Imre; Link, Wolfgang; Murshed, Monzur; Pasch, Andreas; Kaliya-Perumal, Arun-Kumar; Quaglino, Daniela; Qin, Zihan; Sabbagh, Yves; Seminari, Elena; Villar, Marcos M.; Winkler, Christoph; Vanakker, Olivier M.The 3rd Annual Meeting of the International Network on Ectopic Calcification (INTEC) was held in Faro, Portugal on 12–13 September 2024. This hybrid meeting brought together researchers and clinicians focused on the molecular, (patho)physiological, and clinical aspects of ectopic calcification in hereditary and acquired conditions, as well as in aging. The findings presented in this year’s meeting emphasised the complexity of the field, offering new insights into both mechanistic pathways and translational hurdles. The abstracts of this year’s meeting are collected in this conference paper, with permission from the corresponding authors.
- Editors' Corner: Blubber thickness in cetaceansPublication . Canario, AdelinoWang Y, Zhang Q, Xu Q, Zhang H, Liu X, Yang G. Cetacean-specific GPR12 mutation is functionally associated with blubber thickening. Gene, volume 968, 10 October 2025, 149734. https://doi.org/10.1016 /j.gene.2025.149734. The blubber, a thick layer of fatty tissue, is a key adaptation in aquatic mammals, providing energy storage and facilitating buoyancy and locomotion (Berta, 2023). Blubber thickening has evolved independently in cetaceans (whales, dolphins, and porpoises), sirenians (manatees and dugongs), and pinnipeds (seals, sea lions, and walruses), raising questions about the genetic basis of this adaptation. Wang et al. (2025) reasoned that G protein-coupled receptor genes associated with the regulation of lipid metabolism could be involved, and homed in on GPR12, whose deficiency in mice leads to obesity and dyslipidemia (Bjursell et al., 2006)
- Selected papers from the XXI SPB national congress of biochemistry 2021Publication . Aureliano, Manuel; Cancela, M. Leonor; Costa, Ana R.; Antunes, Célia M.The XXI SPB National Congress of Biochemistry 2021 was held at the University of Évora in Portugal on 14–16 October 2021. Under challenging conditions, due to the COVID-19 pandemic, we managed to organize the National Congress of Biochemistry in a hybrid format, where at least 2/3 of the participants (130) came to Évora in person. With the pandemic under control, we carried out the Congress both successfully and safely. This was the main meeting point for Portuguese Biochemistry Society (SPB), fostering the discussion and dissemination of high-quality research in biochemistry, both fundamental and applied, taking place in Portugal. The scientific program under the title “Tuning Biochemistry with Life Sciences and Society” covered a broad range of boundaries, ranging from molecular mechanisms of diseases to drug discovery, as well as innovative biochemistry projects. Science and innovation were promoted through dialogue, sharing, and healthy confraternization.
- Special issue: emerging topics in metal complexes: pharmacological activity, 2nd editionPublication . Ścibior, Agnieszka; Aureliano, Manuel; Llopis, JuanThis Special Issue (SI), titled “Emerging Topics in Metal Complexes: Pharmacological Activity, 2nd Edition”, includes reports updating our knowledge about magnesium (Mg) and neurodegeneration, various metal-containing complexes in terms of their potential therapeutic applications (i.e., ruthenium (Ru), platinum (Pt), zinc (Zn), vanadium (V), copper (Cu), magnesium (Mg), and other metal complexes and their mechanisms in treating Alzheimer’s disease (AD)), and the efficacy of platinum (Pt)-based complexes in the treatment of lung cancer. It also includes research into a promising radiotheranostic agent against prostate cancer and a novel Fe(III)-pyridoxal-derivative complex with serum proteins and DNA binding activities. In addition, this SI provides valuable findings on the efficacy of methylene blue (MB) in protecting the heart from doxorubicin (Dox)-induced damage and addresses the identification of key active constituents in Eucommia ulmoides Oliv. leaves (EUOL) against Parkinson’s disease (PD) and their underlying mechanisms. The scientific articles making up this SI, i.e., three review articles and four original papers (seven in total), have garnered a total of 16 citations and 17,528 views, indicating an average of 2 citations and 2,504 views per publication (29 November 2025). Figure 1 summarizes the issues included in this SI.
- Transcriptomic profiling of zebrafish mutant for cdkl5 reveals dysregulated gene expression associated with neuronal, muscle, visual and skeletal developmentPublication . Varela, Tatiana da Conceição Domingos ; Domingos Varela, Débora Cristina; Conceição, Natércia; Cancela, M. LeonorZebrafish is a well-recognized model for studying human genetic disorders. Recently, we proposed the homozygous cdkl5sa21938 mutant zebrafish as a model of CDKL5 deficiency disorder (CDD), a developmental epileptic encephalopathy with diverse symptoms. This study aimed to explore Cdkl5-associated molecular mechanisms in zebrafish and assess their similarity to those in mammals. We conducted RNA sequencing on whole cdkl5−/− zebrafish and wild-type siblings at 5- and 35-days post-fertilization (dpf) to compare their gene expression profiles. Most significant differentially expressed genes (DEGs) were related to muscle, neuronal, and visual systems which are affected in CDD. Gene Ontology analysis revealed downregulated DEGs enriched in muscle development, extracellular matrix, and actin cytoskeleton functions at both stages, while upregulated DEGs were enriched in eye development functions at 35 dpf. The Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis revealed enrichment of downregulated DEGs in focal adhesion and extracellular matrix (ECM)-receptor interaction pathways at both stages. Neuronal development DEGs were mainly downregulated at both stages, while synaptic signaling DEGs were upregulated at 35 dpf. Crossing cdkl5−/− mutants with the Hb9:GFP transgenic line showed fewer motor neuron cells with shorter axons compared to the wild type, which may explain the impaired motor phenotype observed in zebrafish and CDD patients. Moreover, we identified key downregulated DEGs related to cartilage development at both stages and bone development at 35 dpf, potentially explaining the skeletal defects seen in zebrafish and CDD individuals. In conclusion, Cdkl5 loss in zebrafish leads to dysregulation of genes involved in CDKL5-associated functions in mammals, providing new insights into its less studied functions and phenotypes.