A5020183130- Protease and Inhibitor Mechanisms
- Peptidase Inhibition and Analysis
- Pulmonary Hypertension Research and Treatments
- Blood Coagulation and Thrombosis Mechanisms
- Ubiquitin and proteasome pathways
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Enzyme Production and Characterization
- Machine Learning in Bioinformatics
- Genetics and Neurodevelopmental Disorders
- Nutrition, Genetics, and Disease
- Systemic Sclerosis and Related Diseases
- Cell death mechanisms and regulation
- Protein Hydrolysis and Bioactive Peptides
- Medical Imaging and Pathology Studies
- Cancer Research and Treatment
- Insect Resistance and Genetics
- Circular RNAs in diseases
- Thyroid Disorders and Treatments
- Extracellular vesicles in disease
- MicroRNA in disease regulation
- Viral Infectious Diseases and Gene Expression in Insects
- Growth Hormone and Insulin-like Growth Factors
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
University of Pavia
2017-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2016-2021
Policlinico San Matteo Fondazione
2019
University of Milano-Bicocca
2016
Accumulating evidence shows that Mesenchymal Stem/Stromal Cells (MSCs) exert their therapeutic effects by the release of secretome, made both soluble proteins and nano/microstructured extracellular vesicles (EVs). In this work, for first time, we proved a proteomic investigation adipose-derived (AD)-MSC-secretome contains alpha-1-antitrypsin (AAT), main elastase inhibitor in lung, 72 other involved protease/antiprotease balance, 46 response to bacteria. By secretome fractionation, AAT is...
Abstract Objectives Alpha-1-antitrypsin deficiency is a genetic disorder caused by mutations in the SERPINA1 gene encoding alpha-1-antitrypsin (AAT), major serine protease inhibitor plasma. Reduced AAT levels are associated with elevated risk of developing emphysema mainly due to uncontrolled activity neutrophil elastase lungs. The prevalent Z-AAT mutant and many rare pathogenic variants also predispose liver disease their accumulation as polymeric chains hepatocytes. Part these polymers...
Abstract Background Alpha1‐antitrypsin deficiency (AATD) is an under‐diagnosed hereditary disorder characterized by reduced serum levels of alpha1‐antitrypsin (AAT) and increased risk to develop lung liver diseases at early age. AAT encoded the highly polymorphic SERPINA1 gene. The most common alleles are S Z, but more than 150 rare variants lead low protein. To identify these pathological allelic variants, sequencing required. Since traditional expensive time‐consuming, we evaluated...
Alpha-1 antitrypsin deficiency (AATD) is an underdiagnosed disorder associated with mutations in the SERPINA1 gene encoding alpha-1 (AAT). Severe AATD can manifest as pulmonary emphysema and progressive liver disease. Besides most common pathogenic variants S (E264V) Z (E342K), many rarer genetic of AAT have been found patients general population. Here we report a panel new variants, including 4 null 16 missense alleles, identified among cohort individuals suspected whose phenotypic...
Alpha1-antitrypsin (AAT) is a serine protease inhibitor that encoded by the highly polymorphic SERPINA1 gene. Mutations in this gene can lead to AAT deficiency (AATD), which associated with an increased risk of lung and/or liver disease. On basis electrophoretic migration, variants are named capital letters; M (medium) signifies normal protein. Among pathological variants, M-like ones represent heterogeneous group rare allelic exhibit same pattern as wild-type protein, makes them difficult...
Severe alpha1-antitrypsin (AAT) deficiency (AATD) is associated with a high risk of airflow obstruction and emphysema. The lung disease in those intermediate AAT unclear. Our aims were to compare pulmonary function, time onset symptoms, indicators quality life among patients severe AATD (PI*ZZ), (PI*MZ) from the Italian Registry chronic obstructive (COPD) cohort without (PI*MM).
Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to screen for AATD Kazakh COPD using dried blood spot specimens. alpha1-antitrypsin (AAT) concentration determined by nephelometry, PCR used detect PiS and PiZ alleles; isoelectric focusing confirm questionable genotype results rare AAT variants. To aim, 187 subjects were recruited. Blood samples collected as spot. Genotyping revealed...
Ardak ZHUMAGALIYEVA is the recipient of a European Respiratory Society Fellowship (STRTF 2015-8199) <b>Background:</b> Alpha1-antitrypsin (AAT) deficiency rare and under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD) it mainly affects Caucasian population. <b>Objective:</b> We aimed to identify AAT cases Kazakh COPD, order estimate prevalence this Kazakhstan. <b>Methods:</b> 187 subjects COPD were recruited. Blood samples collected as dried blood spot. The...
Alpha-1 Antitrypsin Deficiency (AATD) is a co-dominant condition associated with an increased risk of lung and liver disease. Since it commonly thought that 95% severe cases AATD have PI*ZZ genotype, most studies about been focused on the Z variant. Nevertheless, over 500 single nucleotide variations in SERPINA1 gene identified. We investigated clinical presentation subjects AAT deficiency due to rare genotypes gene. enrolled patients from Italian Registry for (RIDA1) following inclusion...
<b>Background:</b> Alpha-1 antitrypsin (AAT) is a serine protease inhibitor, encoded by the highly polymorphic SERPINA1 gene. Mutations in gene can lead to AAT deficiency (AATD), which associated with substantially increased risk of lung and liver disease. <b>Objectives:</b> Here we reported 22 novel pathological mutations that discovered during Italian Irish targeted detection programs AATD last years. <b>Methods:</b> We performed determination serum levels rate immune nephelometric method....
<b>Background:</b> Alpha-1 antitrypsin deficiency (AATD) is an under-diagnosed hereditary disorder characterized by reduced serum levels of alpha-1 (AAT) and increased risk to develop lung liver diseases at early age. AAT encoded the highly polymorphic SERPINA1 gene. The most common alleles are named S Z, but more than 100 rare variants lead low protein. To identify pathological allelic variants, different from sequencing gene coding regions required. <b>Objectives</b> Since expensive...
Interstitial lung disease (SSc-ILD) significantly limits long term outcome in Systemic Sclerosis. Gold nanoparticles (GNPs) have a great potential for targeted drug-delivery as we previously showed using drug-loaded GNPs (with anti CD44Ab) to mesenchymal cells obtained from patients with chronic rejection. Since assessed that fibroblastoid-like (FLCs) isolated ILD-SSc express high rate of CD44, tested on these vitro anti-CD44 functionalized gold loaded imatinib (GNP-HCim). GNP-HCim were...
<b>Background:</b> Alpha1-antitrypsin (AAT) Deficiency (AATD) is a hereditary autosomal disorder with co-dominant expression, caused by mutations in the SERPINA1 gene. Several deficient variants of AAT have been identified. Objectives: We recently discovered new pathogenic variant Comparative Genomic Hybridization Array (Array-CGH) and we set up testing approach to identify it routine diagnosis AATD. <b>Methods:</b> developed rapid allele specific test for detection variant, namely...
<b>Background:</b> Severe Alpha-1 Antitrypsin Deficiency (AATD) is an autosomal recessive condition underlying increased risk of lung and/or liver diseases. Since it commonly thought that 95% severe cases AATD result from the homozygous Z allele, most studies about has been focused on variant. Nevertheless, over 500 Single Nucleotide Variations (SNV) in SERPINA1 gene have identified. <b>Objectives:</b> To obtain a comprehensive knowledge clinical presentation subjects with due to rare...
Background: Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to screen for AATD Kazakh COPD using dried blood spot specimens. Methods: alpha1-antitrypsin (AAT) concentration determined by nephelometry, PCR used detect PiS and PiZ alleles; isoelectric focusing confirm questionable genotype results rare AAT variants. Results: To aim, 187 subjects were recruited. Blood samples collected...
<b>Introduction:</b> Severe alpha1-antitrypsin (AAT) deficiency is associated with a high risk of airflow obstruction and emphysema. The lung disease in those intermediate AAT unclear. <b>Aim:</b> To assess pulmonary function, smoking habit, time onset symptoms, indicators quality life (St. George Questionnaire) patients (PI*MZ) severe (PI*ZZ) AATD comparison COPD without (PI*MM). <b>Methods:</b> Patients PI*ZZ (n= 330), PI*MZ (n=183), PI*MM 100) an established diagnosis were recruited from...
<b>Background:</b> Alpha1-antitrypsin deficiency (AATD) is an hereditary disorder which under-recognized, probably because guidelines on best practice are not well established. In order to increase the efficiency of AATD testing in clinical laboratories, each center developed and evaluated integrative diagnostic algorithms. <b>Objectives:</b> Since ideal algorithm laboratory procedures for detection has been established, we decided compare different existing practices. <b>Methods:</b> A...
<b>Background:</b> Alpha1-Antitrypsin (AAT) Deficiency (AATD) is an hereditary disorder that may lead to early-onset emphysema, and chronic liver disease. AAT a serine protease inhibitor, encoded by the highly polymorphic SERPINA1 gene (or PI system). PI*M<sub>whitstable</sub> intronic mutation consisting on 26-base pair (bp) deletion 2-bp insertion in intron IV of normal PI*M2 allele. <b>Objectives:</b> under-investigated mutation, therefore our aim identification this allele samples with...
<b>Background:</b> Alpha-1 antitrypsin (AAT) deficiency is a genetic disorder. Most of case severe AAT are caused by Z and S mutations in the SERPINA1 gene, that reduces serum concentrations till to 15% normal levels. Mutations causing total absence (Null mutations) very rare. Individuals homozygouse for Null should be considered subgroup at particularly high risk emphysema, but their clinical phenotype poorly described. <b>Objectives:</b> We would like evaluate differences between history...
<b>Background:</b> Even though Alpha 1-antitrypsin deficiency (AATD) has been classified as a rare disease, it is one of the most common hereditary disorders. Evidently, AATD substantially under-recognized. Emphysema currently considered lung disease frequently associated to severe AATD. <b>Objectives:</b> We investigated if underdiagnosis due fact that not appropriately ruled out in patients with chronic obstructive pulmonary (COPD) and asthma, contrast recommendation by guidelines....
<b>Background:</b> The Z mutation in alpha-antitrypsin (AAT) results formation of polymeric chains within hepatocytes, with consequent reduction AAT plasma levels and predisposition to emphysema. A small fraction polymers is also present the circulation tissues, where it further decreases anti-protease activity may exert pro-inflammatory functions, thus contributing pathogenesis lung disease deficiency (AATD). As circulating are mainly secreted by liver, their concentration reflect extent...