Type I diabetes is a prominent human pathology with increasing incidence in the population; however, its cause is still unknown. This disease promotes detrimental effects on reproduction, such as lower sperm motility and DNA integrity. Hence, the investigation of the underlying mechanisms of this metabolic disturbance in reproduction and its transgenerational consequences is of the utmost importance. The zebraf...
The Molecular Genetics Mobile Lab or “Laboratório itinerante de Genética Molecular” (Lab-it) was funded in 2008 by Leonor Cancela to promote the learning of molecular genetics which had been introduced at that time into high school biology programms. The project aimed to introduce hands-on laboratory activities in molecular genetics to complement the theoretical concepts taught in school. These included the dev...
HFE-hemochromatosis is a disease characterized by a systemic iron overload phenotype mainly associated with mutations in the HFE protein (HFE) gene. Osteoarthritis (OA) has been reported as one of the most prevalent complications in HFE-hemochromatosis patients, but the mechanisms associated with its onset and progression remain incompletely understood. In this study, we have characterized the response to high ...
In this study, we aimed to investigate the molecular mechanisms responsible for development of osteoarthritis (OA) and osteoporosis (OP) phenotypes in hereditary hemochromatosis using the Hfe-KO mouse model. Results from the analysis of Hfe-KO mice articular cartilage showed that Hfe loss of function alone is not enough to promote an OA-like phenotype and there were no evidences for high iron deposition in arti...
Objective: Hereditary hemochromatosis (HH) is a disease caused by mutations in the Hfe gene characterised by systemic iron overload and associated with an increased prevalence of osteoarthritis (OA) but the role of iron overload in the development of OA is still undefined. To further understand the molecular mechanisms involved we have used a murine model of HH and studied the progression of experimental OA und...
Este trabalho teve como objectivos principais a identificação e caracterização, pela primeira vez, da sequência completa de dois transcritos que codificam para isoformas da Ferritina na amêijoa R. decussatus. Uma vez identificadas as sequências das ORFs, as proteínas correspondentes foram expressas num sistema in vitro o que permitiu analisar algumas das suas propriedades biológicas como a capacidade de oxidaçã...