A5033771716- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Inhalation and Respiratory Drug Delivery
- SARS-CoV-2 and COVID-19 Research
- Celiac Disease Research and Management
- Cellular Mechanics and Interactions
- Neuroscience of respiration and sleep
- Cancer Cells and Metastasis
- Conducting polymers and applications
- Advanced biosensing and bioanalysis techniques
- Galectins and Cancer Biology
- Bacterial biofilms and quorum sensing
- COVID-19 Clinical Research Studies
- Mast cells and histamine
- Biomedical Research and Pathophysiology
- Advanced Nanomaterials in Catalysis
- Analytical Chemistry and Sensors
- 3D Printing in Biomedical Research
- Electrochemical sensors and biosensors
- Heat shock proteins research
- Tea Polyphenols and Effects
- Piperaceae Chemical and Biological Studies
- Wnt/β-catenin signaling in development and cancer
- Autophagy in Disease and Therapy
- Hereditary Neurological Disorders
University of Naples Federico II
2010-2024
Ceinge Biotecnologie Avanzate (Italy)
2023-2024
Sapienza University of Rome
2023
Google (United States)
2023
Cystic Fibrosis Research Foundation
2013-2019
San Raffaele University of Rome
2013-2014
University of Foggia
2010-2012
Federico II University Hospital
2010-2012
Faculty (United Kingdom)
2012
Engineering (Italy)
2012
Cystic fibrosis (CF) patients harboring the most common deletion mutation of CF transmembrane conductance regulator (CFTR), F508del, are poor responders to potentiators CFTR channel activity which can be used treat a small subset who genetically carry plasma membrane (PM)-resident mutants. The misfolded F508del-CFTR protein is unstable in PM even if rescued by pharmacological agents that prevent its intracellular retention and degradation. conformational disease defective induces an...
Restoration of BECN1/Beclin 1-dependent autophagy and depletion SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models human cystic fibrosis (CF). These measures rescue the functional expression most frequent pathogenic CFTR mutant, F508del, at respiratory epithelial surface reduce lung inflammation in Cftr(F508del) homozygous mice. Cysteamine, reduced form is an FDA-approved drug. Here, we report that...
We previously reported that the combination of two safe proteostasis regulators, cysteamine and epigallocatechin gallate (EGCG), can be used to improve deficient expression cystic fibrosis transmembrane conductance regulator (CFTR) in patients homozygous for CFTR Phe508del mutation. Here we provide proof-of-concept this treatment restored function reduced lung inflammation (P<0.001) Phe508del/Phe508del or Phe508del/null-Cftr (but not Cftr-null mice), provided such mice were...
Channel activators (potentiators) of cystic fibrosis (CF) transmembrane conductance regulator (CFTR), can be used for the treatment small subset CF patients that carry plasma membrane-resident CFTR mutants. However, approximately 90% misfolded ΔF508-CFTR and are poorly responsive to potentiators, because is intrinsically unstable at membrane (PM) even if rescued by pharmacological correctors. We have demonstrated human mouse airways autophagy deficient due functional sequestration BECN1...
Cystic fibrosis (CF), the most common lethal monogenic disease in Caucasians, is characterized by recurrent bacterial infections and colonization, mainly Pseudomonas aeruginosa, resulting unresolved airway inflammation. CF caused mutations gene coding for cystic transmembrane conductance regulator (CFTR) protein, which functions as a chloride channel epithelial cells, macrophages, other cell types. Impaired handling macrophages feature of airways, although it still debated how defective CFTR...
The accumulation of misfolded and/or ubiquitinated protein aggregates with a perturbation autophagy has been described in several human pathologies. A sequestration cystic: fibrosis transmembrane conductance regulator (CFTR) and cross-linked PPARγ observed airway epithelia cystic (CF) patients. CF airways are also characterized by chronic inflammation, pro-oxidative environment increased transglutaminase 2 (TG2) levels. We showed that defective CFTR drives inhibition through reactive oxygen...
Article28 November 2018Open Access Source DataTransparent process A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease Valeria R Villella European Institute Research Cystic Fibrosis, San Raffaele Scientific Institute, Milan, Italy Search more papers by this author Andrea Venerando orcid.org/0000-0003-0379-2309 Department of Comparative Biomedicine and Food Science, University Padova, Giorgio Cozza Molecular Medicine, Speranza Esposito Eleonora Ferrari...
To date, the increased awareness of impact microbes on human health has promoted scientific interest in microbiome studies for diagnostic and therapeutic purposes, revealing correlations between specific taxa cancer. In particular, numerous species Porphyromonas have been associated with several types tumors. Previously, we studied urobiome using Next-Generation Sequencing (NGS), found an increase somerae first morning urine subjects affected by bladder cancer (BCa). Here, aimed to confirm...
We have previously reported that TLR4 signaling is increased in LPS-stimulated cystic fibrosis (CF) macrophages (MΦs), contributing to the robust production of proinflammatory cytokines. The heme oxygenase-1 (HO-1)/CO pathway modulates cellular redox status, inflammatory responses, and cell survival. HO-1 enzyme, together with scaffold protein caveolin 1 (CAV-1), also acts as a negative regulator MΦs. In this study, we demonstrate LPS-challenged CF MΦs, does not compartmentalize normally...
Abstract Rationale Chronic lung inflammation with increased susceptibility to bacterial infections cause much of the morbidity and mortality in patients cystic fibrosis (CF), most common severe, autosomal recessively inherited disease Caucasian population. Exogenous inhaled hyaluronan (HA) can exert a protective effect against injury beneficial effects HA have been shown experimental models chronic respiratory diseases. Our objective was examine whether exogenous administration nebulized...
Coordinated rotational motion is an intriguing, yet still elusive mode of collective cell migration, which relevant in pathological and morphogenetic processes. Most the studies on this topic have been carried out epithelial cells plated micropatterned substrates, where confined regions well-defined shapes coated with extracellular matrix adhesive proteins. The driver rotation such conditions has not clearly elucidated, although it speculated that spatial confinement can play essential role...
Cystic fibrosis (CF) is caused by defects of the cystic transmembrane conductance regulator (CFTR) gene. CFTR-modulating drugs may overcome specific defects, such as case Trikafta, which a clinically approved triple combination Elexacaftor, Tezacaftor and Ivacaftor (ETI) that exhibited strong ability to rescue function most frequent F508del pathogenic variant even in genotypes with mutated allele single copy. Nevertheless, rare lacking are still not eligible for targeted therapies. Via...
Mutation targeted therapy in cystic fibrosis (CF) is still not eligible for all CF subjects, especially cases carrying rare variants such as the CFTR genotype W57G/A234D (c.169T>G/c.701C>A). We performed
Transglutaminase 2 (TG2) is a ubiquitously expressed member of the transglutaminase family with Ca2+-dependent protein crosslinking activity. Its subcellular localization crucial in determining its function, and indeed, TG2 found extracellular matrix, mitochondria, recycling endosomes, plasma membrane, cytosol, nucleus because it associated cell growth, differentiation, apoptosis. It involved several pathologies, such as celiac disease, cardiovascular, hepatic, renal, fibrosis diseases,...
The global COVID-19 pandemic has had severe consequences from the social and economic perspectives, compelling scientific community to focus on development of effective diagnostics that can combine a fast response accurate sensitivity/specificity performance. Presently available commercial antigen-detecting rapid diagnostic tests (Ag-RDTs) are very fast, but still face significant criticisms, mainly related their inability amplify protein signal. This translates limited sensitive outcome...
Abstract Under physiological conditions, a finely tuned system of cellular adaptation allows the intestinal mucosa to maintain gut barrier function while avoiding excessive immune responses non-self-antigens from dietary origin or commensal microbes. This homeostatic is compromised in cystic fibrosis (CF) due loss-of-function mutations CF transmembrane conductance regulator (CFTR). Recently, we reported that mice bearing defective CFTR are abnormally susceptible celiac disease-like...
Cystic fibrosis (CF) is a life-limiting genetic disorder characterized by defective chloride ion transport due to mutations in the cystic transmembrane conductance regulator (CFTR) gene. Early detection through newborn screening programs significantly improves outcomes for individuals with CF enabling timely intervention. Here, we report identification of an Alu element insertion within exon 15 CFTR gene, initially overlooked standard next-generation sequencing analyses. However, using...
In Italy, from January 2021, the Ministry of Health indicated a vaccination plan against COVID for frail patients and physicians based on three-dose scheme. However, conflicting results have been reported which biomarkers permit immunization assessment. We used several laboratory approaches (i.e., antibodies serum levels, flow cytometry analysis, cytokines release by stimulated cells) to investigate immune response in cohort 53 family pediatricians (FPs) at different times after vaccine....
Cystic fibrosis (CF) is most frequently due to homozygous ΔF508-CFTR mutation. The protein unstable in the plasma membrane (PM), even if it rescued by pharmacological agents that prevent its intracellular retention and degradation. Restoring defective autophagy CF airways proteostasis regulators (such as cystamine reduced form, cysteamine) can rescue stabilize at PM, thus enabling action of CFTR potentiators, which are stimulate function an ion channel. effects extend for days (in vitro)...