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HepatoPredict Accurately Selects Hepatocellular Carcinoma Patients for Liver Tr...
Andrade, Rita; Perez-Rojas, Judith; da Silva, Sílvia Gomes; Miskinyte, Migla; Quaresma, Margarida C; Frazão, Laura P; Peixoto, CarolinaBackground/objectives: Hepatocellular carcinoma (HCC) is a major cause of cancer-related deaths rising worldwide. This is leading to an increased demand for liver transplantation (LT), the most effective treatment for HCC in its initial stages. However, current patient selection criteria are limited in predicting recurrence and raise ethical concerns about equitable access to care. This study aims to enhance pa...
A two-component, multimeric endolysin encoded by a single gene
Proença, Daniela; Velours, Christophe; Leandro, Clara; Garcia, Miguel; Pimentel, Madalena; São-José, Carlos"Bacteriophage endolysins are bacterial cell wall degrading enzymes whose potential to fight bacterial infections has been intensively studied. Endolysins from Gram-positive systems are typically described as monomeric and as having a modular structure consisting of one or two N-terminal catalytic domains (CDs) linked to a C-terminal region responsible for cell wall binding (CWB). We show here that expression o...
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 traffi...
The functional significance of E277K and V295A HFE mutations
Silva, Bruno; Martins, Rute; Proença, Daniela; Fleming, Rita; Faustino, PaulaHereditary haemochromatosis (HH) is an autosomal recessive disorder characterized by excessive intestinal iron absorption resulting in increased pathological body iron stores. It is typically associated with homozygosity for the c.845G>A (p.C282Y) mutation in the HFE gene. However, other HFE alterations have been reported in affected individuals but their association with the disease is unclear. This study anal...
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....