Publications by authors named "S A Fontana"
X-linked sideroblastic anemia (XLSA) is a congenital anemia caused by mutations in ALAS2, a gene responsible for heme synthesis. Treatments are limited to pyridoxine supplements and blood transfusions, offering no definitive cure except for allogeneic hematopoietic stem cell transplantation, only accessible to a subset of patients. The absence of a suitable animal model has hindered the development of gene therapy research for this disease.
View Article and Find Full Text PDFThe design of inhaled selective phosphatidylinositol 3-kinase delta (PI3Kδ) inhibitors for the treatment of inflammatory lung diseases was pursued. Knowledge-based design of a novel isocoumarin scaffold that was able to adopt a topology ensured the desired PI3Kδ selectivity. Achievement of low nanomolar cellular potencies through hinge binder group optimization, reduction of intrinsic permeability through head group optimization to extend lung retention, and screening of crystalline forms suitable for administration as dry powders culminated in the identification of compound .
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- - Endometriosis is a chronic condition affecting many women, causing debilitating pelvic pain and infertility, which negatively impacts their quality of life.
- - Recent research highlights natural bioactive compounds from plants, like curcumins and polyphenols, as having potential benefits for managing endometriosis and its symptoms by targeting inflammation and pain pathways.
- - Most studies on these natural compounds are preclinical (in vitro and animal studies), indicating a need for more clinical trials to assess their effectiveness and safety in treating endometriosis in humans.
Background: Glioblastoma multiforme (GBM) is an aggressive tumor, difficult to treat pharmacologically because of the blood-brain barrier (BBB), which is rich in ATP-binding cassette (ABC) transporters and tight junction (TJ) proteins. The BBB is disrupted within GBM bulk, but it is competent in brain-adjacent-to-tumor areas, where eventual GBM foci can trigger tumor relapse. How GBM cells influence the permeability of BBB is poorly investigated.
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- The study investigates the interaction between plant-derived nanovesicles (PDNVs), particularly lemon-derived nanovesicles (LNVs), and mammalian cells, highlighting their potential to regulate important molecular pathways.
- It focuses on the antioxidant effects of LNVs and industrial-scale lemon nanovesicles (iLNVs) on healthy human liver cells and rats with metabolic syndrome induced by a high-fat diet, showing a reduction in reactive oxygen species (ROS) production and an increase in antioxidant proteins (Nrf2 and HO-1).
- The results suggest that iLNVs improve glucose tolerance and lipid metabolism in rats while enhancing overall liver health, positioning LNVs/iLNVs as a potential treatment for