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Duodenal Cytochrome B and Hephaestin Expression is Regulated by the Soluble HFE...
Silva, Bruno; Martins, Rute; Proença, Daniela; Faustino, PaulaINTRODUCTION: Hereditary Hemochromatosis is an autosomal recessive disorder characterized by excessive intestinal iron absorption and iron deposition in organs such as liver, heart and pancreas, potentially leading to cirrhosis, hepatocelular carcinoma, diabetes, cardiac failure and arthritis. This disorder is mainly due to mutations in HFE gene. HFE protein associates with beta-2 microglobulin (B2M) for traff...
A soluble HFE splice variant seems to regulate the expression of duodenal cytoc...
Silva, Bruno; Martins, Rute; Proença, Daniela; Faustino, PaulaINTRODUCTION: Hereditary Hemochromatosis is an autosomal recessive disorder characterized by excessive intestinal iron absorption and pathological iron deposition in organs such as liver, heart and pancreas. The disease is predominantly caused by homozygosity for the p.C282Y mutation in HFE, which impairs protein association with its chaperone beta-2 microglobulin (B2M), for correct folding and traffic to the c...
Alternative polyadenylation and nonsense-mediated decay coordinately regulate t...
Martins, Rute; Proença, Daniela; Silva, Bruno; Barbosa, Cristina; Silva, Ana Luísa; Faustino, Paula; Romão, LuísaNonsense-mediated decay (NMD) is an mRNA surveillance pathway that selectively recognizes and degrades defective mRNAs carrying premature translation-termination codons. However, several studies have shown that NMD also targets physiological transcripts that encode full-length proteins, modulating their expression. Indeed, some features of physiological mRNAs can render them NMD-sensitive. Human HFE is a MHC cl...
Differential HFE Gene Expression is Regulated by Alternative Splicing in Human ...
Martins, Rute; Silva, Bruno; Proença, Daniela; Faustino, PaulaBackground - The pathophysiology of HFE-derived Hereditary Hemochromatosis and the function of HFE protein in iron homeostasis remain uncertain. Also, the role of alternative splicing in HFE gene expression regulation and the possible function of the corresponding protein isoforms are still unknown. The aim of this study was to gain insights into the physiological significance of these alternative HFE variants....
Estudo da actividade de lisinas codificadas por bacteriófagos que infectam Ente...
Proença, Daniela Sofia MoreiraDissertação apresentada para a obtenção do Grau de Mestre em Genética Molecular e Biomedicina, pela Universidade Nova de Lisboa, Faculdade de Ciências e Tecnologia ; As endolisinas são proteínas codificadas no genoma de bacteriófagos de DNA de cadeia duplas. São produzidas na fase tardia do ciclo de vida lítico do fago e apresentam actividade hidrolítica ao nível do peptidoglicano, que permite a libertação da ...
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