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Induced pluripotent stem cell-derived mesenchymal stem cells for modeling and t...
Silva, Barbara Sofia Marques da; Bragança, JoséThe potential of induced pluripotent stem cells (iPSCs) for modeling and treating metabolic associated fatty liver disease (MAFLD) and metabolic associated steatohepatitis (MASH) is emerging. MAFLD is a growing global health concern, currently with limited treatment options. While primary mesenchymal stem cells hold promise, iPSCs offer a versatile alternative due to their ability to differentiate into various ...
CITED Proteins in cardiac development and lifelong heart function
Bragança, José; Cabrita Pinto, Rute Luísa; Vairinho Ventura, Igor; Ferreira, Silvana; Marreiros, AntónioThe CITED proteins function as transcriptional modulators that are essential for vertebrate development. These proteins interact with numerous partners, notably transcription factors and co-activators. The hallmark of the CITED family is their conserved carboxy-terminal domain, which interacts strongly with the CBP/p300 co-activators. The expression of CITED genes is detected early during embryogenesis within e...
Generation of Cellular Models for Fabry Disease: Unlocking the Potential of iPS...
Duarte, Ana Joana; Moreira, Luciana; Ribeiro, Diogo; Alves, Sandra; Gaspar, Paulo; Bragança, José; Amaral, OlgaIntroduction: Fabry Disease (FD) is a lysosomal storage disorder caused by mutations in the GLA gene, resulting in a defective α-GAL A enzyme. This deficiency leads to the accumulation of Gb3 and lyso-Gb3 within lysosomes, resulting in a multisystem disease. Through reprogramming, we obtained induced pluripotent stem cells (iPSCs) derived from fibroblasts of a patient with FD2 and from a wild-type (WT) control....
Gene editing as a tool for developing cell based models of a lysosomal storage ...
Duarte, Ana Joana; Moreira, Luciana; Gaspar, Paulo; Alves, Sandra; Bragança, José; Amaral, OlgaIn this work, we aimed to establish a Fabry Disease (FD, OMIM: #301500) disease model using the CRISPR/Cas 9 system by knocking out a HDFa iPSC line. We also aimed to correct a nonsense mutation (p. W 287 X) in the iPSCs derived from a patient with FD. The cell lines used were generated in our laboratory, and the FD iPSC line is registered in the Human Pluripotent Stem Cell Registry with identification "INSAi 0...
Establishment of an induced pluripotent cell line (ABCRIi001-A) from an elderly...
Esteves, Filipa; Vilhena Catarino Brito, David; Rajado, Ana Teresa; Silva, Nádia; Apolónio, Joana; Roberto, Vânia; Andrade, Raquel; Calado, SofiaHuman induced pluripotent stem cells (hiPSCs) hold promises to model and understand human diseases, including those associated with ageing. Here, we describe ABCRIi001-A, a hiPSC line generated from peripheral blood mononuclear cells (PBMCs) of a 79-year-old female enrolled in a study for development of an ageing score (ALFA Score). PBMCs were reprogrammed using three Sendai virus-based reprogramming vectors (h...
Oxidative stress and aging: synergies for age related diseases
Filipa Santos, Daniela; Simao, Sonia; Nóbrega, Clévio; Bragança, José; Castelo-Branco, Pedro; Pombinho de Araújo, Inês Maria; ALFA Score ConsortiumAging is characterized by a progressive decline in physiological function and underlies several disabilities, including the increased sensitivity of cells and tissues to undergo pathological oxidative stress. In recent years, efforts have been made to better understand the relationship between age and oxidative stress and further develop therapeutic strategies to minimize the impact of both events on age-relate...
Novel and deleterious nucleotide variations in the HAND1 gene probably affect m...
Tabrizi, Fateme; Khatami, Mehri; Heidari, Mohammad Mehdi; Bragança, José; Tatari, Hasan; Namnabat, Hasan; Hadadzadeh, MehdiBackground Congenital heart disease (CHD) is the most prevalent developmental defect and principal cause of infant mortality and affects cardiac and large blood vessel structures in approximately 1% of live births worldwide. To date, numerous studies have related critical genetic dysfunctions to the pathogenesis of CHDs. However, the genetic basis underlying CHD remains largely unknown. In the present study, we...
Charting the path: navigating embryonic development to potentially safeguard ag...
Bragança, José; Pinto, Rute L.; Silva, Barbara S.; Marques, Nuno; Leitao, Helena; Fernandes, Mónica T.Congenital heart diseases (CHDs) are structural or functional defects present at birth due to improper heart development. Current therapeutic approaches to treating severe CHDs are primarily palliative surgical interventions during the peri- or prenatal stages, when the heart has fully developed from faulty embryogenesis. However, earlier interventions during embryonic development have the potential for better ...
Human stem cells for cardiac disease modeling and preclinical and clinical appl...
Correia, Cátia; Ferreira, Anita; Fernandes, Mónica T.; Silva, Bárbara M.; Esteves, Filipa; Leitao, Helena; Bragança, José; Calado, SofiaCardiovascular diseases (CVDs) are pointed out by the World Health Organization (WHO) as the leading cause of death, contributing to a significant and growing global health and economic burden. Despite advancements in clinical approaches, there is a critical need for innovative cardiovascular treatments to improve patient outcomes. Therapies based on adult stem cells (ASCs) and embryonic stem cells (ESCs) have ...
Interferon-alpha decreases cancer stem cell properties and modulates exosomes i...
García-Ortega, María Belén; Aparicio, Ernesto; Griñán-Lisón, Carmen; Jiménez, Gema; López-Ruiz, Elena; Palacios, José Luis; Ruiz-Alcalá, GloriaMalignant melanoma (MM) can spread to other organs and is resistant in part due to the presence of cancer stem cell subpopulations (CSCs). While a controversial high dose of interferon-alpha (IFN-α) has been used to treat non-metastatic high-risk melanoma, it comes with undesirable side effects. In this study, we evaluated the effect of low and high doses of IFN-α on CSCs by analyzing ALDH activity, side popula...