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A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectua...

Martins, M; Oliveira, AR; Martins, S; Vieira, JP; Perdigão, P; Fernandes, AR; de Almeida, LP; Palma, PJ; Sequeira, DB; Santos, JM; Duque, F; Oliveira, G

Disruptions in the MBD5 gene have been linked with an array of clinical features such as global developmental delay, intellectual disability, autistic-like symptoms, and seizures, through unclear mechanisms. MBD5 haploinsufficiency has been associated with the disruption of primary cilium-related processes during early cortical development, and this has been reported in many neurodevelopmental disorders. In thi...


Mono- and Dicationic DABCO/Quinuclidine Composed Nanomaterials for the Loading ...

Fernandes, AR; Sanchez-Lopez, E; Santini, A; Santos, T; Garcia, ML; Silva, AM; Souto, EB

Oil-in-water nanoemulsions (NEs) are considered a suitable nanotechnological approach to improve the eye-related bioavailability of lipophilic drugs. The potential of cationic NEs is prominent due to the electrostatic interaction that occurs between the positively charged droplets with the negatively charged mucins present in the tear film. This interaction offers prolonged NEs residence at the ocular surface, ...


Development and characterization of nanoemulsions for ophthalmic applications: ...

Fernandes, AR; Sanchez-Lopez, E; Santos, T; Garcia, ML; Silva, AM; Souto, EB

The eye is a very complex organ comprising several physiological and physical barriers that compromise drug absorption into deeper layers. Nanoemulsions are promising delivery systems to be used in ocular drug delivery due to their innumerous advantages, such as high retention time onto the site of application and the modified release profile of loaded drugs, thereby contributing to increasing the bioavailabili...


Dabco-customized nanoemulsions: Characterization, cell viability and genotoxici...

Fernandes, AR; Santos, T; Granja, PL; Sanchez-Lopez, E; Santini, A; Garcia, ML; Silva, AM; Souto, EB

Quaternary derivatives of 1,4-diazabicyclo[2.2.2]octane (DABCO) and of quinuclidine surfactants were used to develop oil-in-water nanoemulsions with the purpose of selecting the best long-term stable nanoemulsion for the ocular administration of triamcinolone acetonide (TA). The combination of the best physicochemical properties (i.e., mean droplet size, polydispersity index, zeta potential, osmolality, viscoel...


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