Mestrado em Educação Pré-Escolar e Ensino do 1º Ciclo do Ensino Básico (Relatório de Estágio). ; Este relatório tem como tema “Educação, Cidadania e Ser em (in)Segurança: Contributos das Práticas Educativas e Curriculares para a Prevenção de Acidentes” e pretende apresentar as experiências que a formanda realizou aquando dos estágios no Pré-escolar e no Ensino do 1.º Ciclo do Ensino Básico, numa perspectiva re...
Dissertação de Mestrado em Relações Interculturais apresentada à Universidade Aberta ; Ao longo dos séculos a tecnologia foi adquirindo importância na vida dos seres humanos, os inventos inovadores foram integrados como se fossem membros do corpo, uma extensão do mesmo. Presentemente, a Internet é uma rede que faz parte da rotina diária da maioria dos indivíduos dos países mais desenvolvidos, permitindo o aces...
BACKGROUND: During myogenesis several transcription factors and regulators of protein synthesis and assembly are rapidly degraded by the ubiquitin-proteasome system (UPS). Given the potential role of the deubiquitinating enzyme (DUB) ataxin-3 in the UPS, and the high expression of the murine ataxin-3 homolog in muscle during embryogenesis, we sought to define its role in muscle differentiation. METHODOLOGY/PRIN...
Machado-Joseph disease (MJD) is a late-onset neurodegenerative disorder caused by a polyglutamine (polyQ) expansion in the ataxin-3 protein. We generated two transgenic mouse lineages expressing the expanded human ataxin-3 under the control of the CMV promoter: CMVMJD83 and CMVMJD94, carrying Q83 and Q94 stretches, respectively. Behavioral analysis revealed that the CMVMJD94 transgenic mice developed motor unco...
Tese de Doutoramento em Ciências da Saúde - Especialização em Ciências Biológicas e Biomédicas ; Polyglutamine-associated (polyQ) diseases are the most common class of inherited neurodegenerative disorders. These yet untreatable disorders (nine at this moment) are characterised by a selective neuronal death, specific of each disease, and caused by the expansion of a polyQ tract in the corresponding proteins. T...
Huntington disease (HD) is caused by an expansion of a CAG repeat. This repeat is a dynamic mutation that tends to undergo intergenerational instability. We report the analysis of the CAG repeat in a large population sample (2,000 chromosomes) covering all regions of Portugal, and a haplotype study of (CAG)n and (CCG)n repeats in 140 HD Portuguese families. Intermediate class 2 alleles represented 3.0% of the p...
Dois experimentos foram realizados para se avaliar o efeito de enzimas microbianas sobre o ganho de peso, o consumo de ração e a conversão alimentar frangos de corte. No primeiro experimento, utilizaram-se 288 pintos de 8 a 21 dias de idade em um delineamento inteiramente casualizado (DIC), em arranjo fatorial 2 x 2, (duas dietas, farelo de soja + sorgo e farelo de soja + milheto, com ou sem complexo multienzim...
Benign hereditary chorea (BHC) is an autosomaldominant disorder of early onset characterized by a slowly progressing or nonprogressing chorea, without cognitive decline or other progressive neurologic dysfunction, but also by the existence of heterogeneity of the clinical presentation within and among families. The genetic cause of BHC is the presence of either point mutations or deletions in the thyroid transc...
To gain insights on the molecular mechanisms of mutation that led to the emergence of expanded alleles in the MJD gene, by studying the behavior of wild-type alleles and testing the association of its distribution with the representation of the disease. Methods: The number of CAG motifs in the MJD gene was determined in a representative sample of 1000 unrelated individuals. Associations between the repeat size ...
Machado-Joseph’s disease is caused by a CAG trinucleotide repeat expansion that is translated into an abnormally long polyglutamine tract in the protein ataxin-3. Except for the polyglutamine region, proteins associated with polyglutamine diseases are unrelated, and for all of these diseases aggregates containing these proteins are the major components of the nuclear proteinaceous deposits found in the brain. A...
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