Cinema, linguagem e sociedade

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Excalibur: uma perspectiva pagã sobre a lenda de Excalibur

This work tries to show to the reader a more mystical side of Excalibur and its importance to the Arthurian myth. As its origin is pagan indigenous to the legends of the Celtic people, they will be briefly introduced to the reader so that they can realize the time in which the Celts lived, who they were and a little about how they acted in accordance with their culture . It will also be exposed a brief overview about the character of King Arthur and all the changes that it has passed through according to what suited to the culture of each time. Two legends about Excalibur will be analyzed, so that both points of view Pagan and Christian can be disclosed according to the myths and theoretical texts used as a basis for this work. Finally, several analyzis about the sword will be brought to the reader so they can understand the complexity of myths and symbols that the Celts have left as a legacy

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease

Canavan disease, an inherited leukodystrophy, is caused by mutations in the aspartoacylase (ASPA) gene. It is most common among children of Ashkenazi Jewish descent but has been diagnosed in many diverse ethnic groups. Two mutations comprise the majority of mutant alleles in Jewish patients, while mutations in the ASPA gene among non-Jewish patients are different and more diverse. In the present study, the ASPA gene was analysed in 22 unrelated non-Jewish patients with Canavan disease, and 24 different mutations were found. of these,14 are novel, including five missense mutations (E24G, D68A, D249V, C152W, H244R), two nonsense mutations (Q184X, E214X), three deletions (923delT, 33del13, 244delA), one insertion mutation (698insC), two sequence variations in one allele ([10T>G; 11insG]), an elimination of the stop codon (941A>G, TAG-->TGG, X314W), and one splice acceptor site mutation (IVS1 - 2A>T). The E24G mutation resulted in substitution of an invariable amino acid residue (Glu) in the first esterase catalytic domain consensus sequence. The IVS1 - 2A>T mutation caused the retention of 40 nucleotides of intron 1 upstream of exon 2. The results of transient expression of the mutant ASPA cDNA containing these mutations in COS-7 cells and assays for ASPA activity of patient fibroblasts indicated that these mutations were responsible for the enzyme deficiency. In addition, patients with the novel D249V mutation manifested clinically at birth and died early. Also, patients with certain other novel mutations, including C152W, E214X, X314W, and frameshift mutations in both alleles, developed clinical manifestations at an earlier age than in classical Canavan disease.