Browsing by Author "Marques, Ana"
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- Evidence for a role of nonsense-mediated mRNA decay pathway genes in Autism Spectrum DisorderPublication . Marques, Ana; Martiniano, Hugo; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Romão, Luísa; Vicente, AstridIntroduction: Autism Spectrum Disorder (ASD) is a highly heterogeneous neurodevelopmental disorder with an unclear etiology. Genetic factors are estimated to account for 50 to 80% of the familial ASD risk, but most of the genetic determinants are still not known and a role for other regulatory mechanisms is likely. The nonsense-mediated decay (NMD) pathway controls mRNA quality and plays an important role in the regulation of the transcriptome. Mutations in genes involved in the NMD pathway have been linked to neurodevelopmental disorders, with intriguing evidence for an involvement of mutations in the UPF3B gene, a core component of the NMD pathway, in ASD.
- Identification of molecular alterations in neurotransmission and synaptic genes in Autism Spectrum DisorderPublication . Vilela, Joana; Martiniano, Hugo; Luzi, Sonija; Marques, Ana; Santos, João; Asif, Muhammad; Rasga, Célia; Oliveira, Guiomar; Vicente, AstridAutism Spectrum Disorder (ASD) is a neurodevelopmental disorder, which affects brain function. It is characterized by the presence of social communication deficits and restricted, repetitive patterns of behavior. ASD has a strong genetic component and there is evidence in support of many putative risk genes. However, the genetics and the biological processes underlying the disease are still incompletely understood and will require the integration of intermediate phenotypic analysis provided by direct observation tools such as brain imaging.
- The Preyssler-Type Polyoxotungstate Exhibits Anti-Quorum Sensing, Antibiofilm, and Antiviral ActivitiesPublication . Faleiro, Leonor; Marques, Ana; Martins, João; Jordão, Luísa; Nogueira, Isabel; Gumerova, Nadiia I.; Rompel, Annette; Aureliano, ManuelSimple Summary: Besides showing the antibacterial activity of the Preyssler-type polyoxotungstate (POT) P5W30 with the ability to affect MRSA cells, we demonstrated that P5W30 also displays other proprieties, such as anti-quorum sensing and antibiofilm. These are biological activities that are reported for a POT for the first time. Quorum sensing and biofilm facilitate the bacterial colonization, antibiotic resistance and persistence in both the environment and host, and its impairment by POTs can greatly contribute to the control of bacterial infections, such as those caused by multiresistant bacteria. Moreover, antiviral activity was also observed using the enterovirus Qβ. NMR stability studies of P5W30 demonstrate that it remains intact, suggesting its responsibility in the described biological activities. Taken together, our results emphasize the potential biomedical use of POTs, particularly the Preyssler-type POT, to fight antibiotic-resistant MRSA strains and their ability to form biofilm, besides being a promising antiviral agent.