A5053318866- FOXO transcription factor regulation
- Genetic factors in colorectal cancer
- Colorectal Cancer Treatments and Studies
- Melanoma and MAPK Pathways
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Cancer-related Molecular Pathways
- Cancer Mechanisms and Therapy
- Histone Deacetylase Inhibitors Research
- Genetics, Aging, and Longevity in Model Organisms
- Peptidase Inhibition and Analysis
- Vascular Malformations and Hemangiomas
- DNA Repair Mechanisms
- Pulmonary Hypertension Research and Treatments
- PARP inhibition in cancer therapy
- Autophagy in Disease and Therapy
- RNA Research and Splicing
- Wnt/β-catenin signaling in development and cancer
- PI3K/AKT/mTOR signaling in cancer
- MicroRNA in disease regulation
- Inflammatory Myopathies and Dermatomyositis
- Celiac Disease Research and Management
Gastroenterology Hospital "Saverio de Bellis"
2012-2025
Azienda Usl Toscana Centro
2017-2023
Medical Genetics Center
2015-2020
Cancer Research UK Manchester Institute
2018
University of Bari Aldo Moro
2014-2018
University of Manchester
2018
Nuovo Ospedale San Giovanni di Dio
2018
Istituto Tumori Bari
2014-2015
Istituti di Ricovero e Cura a Carattere Scientifico
2014-2015
Mario Negri Sud Foundation
2010-2012
An altered metabolism is involved in the development of clear cell -renal carcinoma (ccRCC), and this tumor many genes play a fundamental role controlling metabolic activities.We delineated large-scale metabolomic profile human ccRCC, integrated it with transcriptomic data to connect variations cancer gene expression changes.Moreover, better analyze specific contribution alterations potentially associated tumorigenesis progression, we evaluated transcription primary renal cells.Untargeted...
Background PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that affect only the terminal portion limb, such as type I macrodactyly, and conditions like fibroadipose (FAO), megalencephaly-capillary malformation (MCAP) syndrome, congenital lipomatous asymmetric trunk, lymphatic, capillary, venous, combined-type vascular malformations, epidermal nevi, skeletal spinal anomalies (CLOVES) syndrome Hemihyperplasia Multiple Lipomatosis (HHML). Heterozygous postzygotic PIK3CA...
Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate PI3K/AKT/mTOR pathway in PIK3CA-related overgrowth spectrum (PROS) patients, causing congenital mosaic tissue that even multiple surgeries cannot solve. mTOR inhibitors are empirically tested and given for compassionate use these patients. PROS patients could be ideal candidates enrolment trials with PI3K/AKT inhibitors, considering "clean" cellular...
The HSF and FOXO families of transcription factors play evolutionarily conserved roles in stress resistance lifespan. In humans, the rs2802292 G-allele at FOXO3 locus has been associated with longevity all human populations tested; moreover, its copy number correlated reduced frequency age-related diseases centenarians. At molecular level, intronic increased expression FOXO3, suggesting that intron 2 may represent a regulatory region. Here we show 90-bp sequence around single nucleotide...
Abstract While aberrant cancer cell growth is frequently associated with altered biochemical metabolism, normal mitochondrial functions are usually preserved and necessary for full malignant transformation. The transcription factor FoxO3A a key determinant of homeostasis, playing dual role in survival/death response to metabolic stress therapeutics. We recently described novel arm the AMPK-FoxO3A axis cells upon nutrient shortage. Here, we show that metabolically stressed cells, recruited...
Juvenile polyposis syndrome (JPS) is an inherited autosomal dominant condition that predisposes to the development of juvenile polyps throughout gastrointestinal (GI) tract, and it poses increased risk GI malignancy. Germline causative variants were identified in
Prostate cancer (PCa) is the second leading cause of cancer-related death in men; however, molecular mechanisms to its development and progression are not yet fully elucidated. Of note, it has been recently shown that conditional stk11 knockout mice develop atypical hyperplasia prostate intraepithelial neoplasia (PIN). We reported an inverse correlation between activity STK11/AMPK pathway MAPK/p38 cascade HIF1A-dependent malignancies. Furthermore, overactivation was detected benign...
Background: Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) is a cluster of conditions characterized by accumulations fat, metabolic factors such as obesity, diabetes and high cholesterol. MASLD now the leading cause chronic liver disease worldwide, with rapidly increasing trend. We aimed to demonstrate that genetic variants rs2802292 SNP can influence development even after many years. Methods: studied 650 participants from NUTRIHEP cohort, both at baseline (2005–2006)...
Immunoblot (IB) methods are widely used to detect myositis-specific autoantibodies (MSAs); however, false-positive results common. In this study, we aimed determine whether associating the anti-nuclear antibody (ANA) IIF pattern may help improve specificity of MSA detection by IB in patients with idiopathic inflammatory myositis (IIM).Serum samples from 104 presenting muscle weakness/myalgia and positive at least one (MYOS12 Diver MIOS7 Diver, D-tek) were tested for ANAs on HEp-2000 cells...
<h3>Introduction:</h3> Ovarian cancer is highly sensitive to chemotherapy but also shows a high rate of recurrence and drug resistance. These negative outcomes mostly depend on altered apoptotic pathways, making the design new therapeutic strategies based induction other types cell death desirable. Several lines research are now addressing cancer-specific features specifically target tumor cells, thus reducing adverse effects. In this light, great deal attention has been devoted metabolic...
Intrahepatic Cholangiocarcinoma (iCCA) is characterized by a strong stromal reaction playing role in tumor progression. Thymus cell antigen 1 (THY1), also called Cluster of Differentiation 90 (CD90), key regulator cell-cell and cell-matrix interaction. In iCCA, CD90 has been reported to be associated with poor prognosis. an iCCA PDX model, we recently found that was downregulated mice treated the Notch γ-secretase inhibitor Crenigacestat. The study aims investigate relation NOTCH...
In the search for new strategies to efficiently fight colorectal cancer, efforts are being increasingly focused on targeting regulatory signaling pathways involved in cancer-specific features. As a result, several studies have recently addressed therapeutic potential of molecularly-targeted drugs capable inhibiting activity protein kinases relevant cascades. Here we show that simultaneous inhibition DFG-in and DFG-out conformations p38α by means type-I type-II inhibitors is beneficial impair...
SMYD3 is frequently overexpressed in a wide variety of cancers. Indeed, its inactivation reduces tumor growth preclinical vivo animal models. However, extensive characterization vitro failed to clarify function cancer cells, although confirming importance carcinogenesis. Taking advantage mutant variant identified high-risk breast family, here we show that phosphorylation by ATM enables the formation multiprotein complex including ATM, SMYD3, CHK2, and BRCA2, which required for final loading...