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Different pathways contribute to the turnover of connexins, the main structural components of gap junctions (GJs). The cellular pool of connexins targeted to each pathway and the functional consequences of degradation through these degradative pathways are unknown. In this work, we focused on the contribution of macroautophagy to connexin degradation. Using(More)
The objective of this study was to estimate the prevalence of autistic spectrum disorder (ASD) and identify its clinical characterization, and medical conditions in a paediatric population in Portugal. A school survey was conducted in elementary schools, targeting 332,808 school-aged children in the mainland and 10,910 in the Azores islands. Referred(More)
The hypothesis of an immune dysfunction in autism spectrum disorders has previously been put forward without, however, compelling evidence of a direct relation to its etiology or pathogenesis. To further understand if autoimmunity could play a significant role in autism, we analyzed autoantibody repertoires to brain tissue extract in the plasma of 171(More)
Mutations in the coding sequence of the methyl-CpG-binding protein 2 gene (MECP2), which cause Rett syndrome (RTT), have been found in male and female autistic subjects without, however, a causal relation having unequivocally been established. In this study, the MECP2 gene was scanned in a Portuguese autistic population, hypothesizing that the phenotypic(More)
The ubiquitin–proteasome system (UPS) is the primary proteolytic complex responsible for the elimination of damaged and misfolded intracellular proteins, often formed upon oxidative stress. Parkinson’s disease (PD) is neuropathologically characterized by selective death of dopaminergic neurons in the substantia nigra (SN) and accumulation of(More)
It has been suggested that early- and late-onset forms of obsessive-compulsive disorder (OCD) may stem from different neurobiological substrates manifesting themselves through particular phenotypic profiles. Our study aimed to assess the existence of clinical and therapeutic differences between adult patients with early- and late-onset OCD (EOCD and LOCD,(More)
Hypoxia-inducible factor-1 (HIF-1) plays a key role in cell adaptation to low oxygen and stabilization of HIF-1 is vital to ensure cell survival under hypoxia. Diabetes has been associated with impairment of the cell response to hypoxia and downregulation of HIF-1 is most likely the event that transduces hyperglycemia into increased cell death in(More)
The effect of maturation and of two lipid modulators supplementation along in vitro maturation (IVM) on fatty acid (FA) and dimethylacetal (DMA) composition of porcine cumulus oocyte complexes (COC) were studied. Abattoir-derived immature COC were analyzed for FA and DMA or submitted to IVM as follows: control group; t10,c12 CLA group, t10,c12 CLA(More)
Little is known about the extent and the mechanisms through which culture may affect the clinical manifestations of obsessive-compulsive disorder (OCD). In this study, our objective was to identify culture-related symptomatological patterns in OCD. We described the socio-demographic and phenomenological characteristics of 101 adult patients with OCD seen at(More)
1. We explored the effects of climatic variables (mean altitude, mean daily winter temperature , mean daily summer temperature, mean annual precipitation and days of precipitation per year) on energetic parameters (food intake and resting oxygen consumption) in six Robertsonian chromosomal races and hybrid populations of House Mice (Mus musculus domesticus)(More)