6 documents found, page 1 of 1
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CD...
Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C.; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, SarahPhosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some pat...
Bioactivity gradients of cytoprotective and anticancer catechins in skin: Simul...
Silva, João; Videira, Paula; Lagoa, RicardoDermal delivery of catechins may be an effective approach for protection of skin against inflammation, aging and cancer caused by exposure to radiation and environmental toxicants. Catechins are flavonoid-type polyphenols showing capacity to attenuate UV-induced skin injury, carcinogenesis and melanoma metastasis, but the prevalence of beneficial effects depends on compound concentration. In this work, catechin...
Bioactivity gradients of cytoprotective and anticancer catechins in skin: Simul...
Silva, João; Videira, Paula; Lagoa, RicardoDermal delivery of catechins may be an effective approach for protection of skin against inflammation, aging and cancer caused by exposure to radiation and environmental toxicants. Catechins are flavonoid-type polyphenols showing capacity to attenuate UV-induced skin injury, carcinogenesis and melanoma metastasis, but the prevalence of beneficial effects depends on compound concentration. In this work, catechin...
FASL polymorphism is associated with response to bacillus Calmette-Guérin immun...
Lima, Luís; Ferreira, José Alexandre; Tavares, Ana; Oliveira, Daniela; Morais, António; Videira, Paula; Medeiros, Rui; Santos, LúcioObjective Deregulation of FAS/FASL system may lead to immune escape and influence bacillus Calmette-Guérin (BCG) immunotherapy outcome, which is currently the gold standard adjuvant treatment for high-risk non–muscle invasive bladder tumors. Among other events, functional promoter polymorphisms of FAS and FASL genes may alter their transcriptional activity. Therefore, we aim to evaluate the role of FAS and FASL...
Overexpression of tumour-associated carbohydrate antigen sialyl-Tn in advanced ...
Ferreira, José Alexandre; Videira, Paula; Lima, Luís; Pereira, Sofia; Silva, Mariana; Carrascal, Milene; Severino, Paulo; Fernandes, ElisabeteLittle is known on the expression of the tumour-associated carbohydrate antigen sialyl-Tn (STn), in bladder cancer. We report here that 75% of the high-grade bladder tumours, presenting elevated proliferation rates and high risk of recurrence/progression expressed STn. However, it was mainly found in non-proliferative areas of the tumour, namely in cells invading the basal and muscle layers. STn was also found ...
Response of high-risk of recurrence/progression bladder tumours expressing sial...
Lima, Luís; Severino, Paulo; Silva, Mariana; Miranda, Andreia; Tavares, Ana; Pereira, Sofia; Fernandes, Elisabete; Cruz, Ricardo; Amaro, TeresinaHigh risk of recurrence/progression bladder tumours is treated with Bacillus Calmette-Guérin (BCG) immunotherapy after complete resection of the tumour. Approximately 75% of these tumours express the uncommon carbohydrate antigen sialyl-Tn (Tn), a surrogate biomarker of tumour aggressiveness. Such changes in the glycosylation of cell-surface proteins influence tumour microenvironment and immune responses that m...