Search results for " CYSTIC FIBROSIS."

showing 10 items of 18 documents

An overview on chemical structures as ΔF508-CFTR correctors

2019

Deletion of phenylalanine at position 508 (F508del) in the CFTR protein, is the most common mutation causing cystic fibrosis (CF). F508del causes misfolding and rapid degradation of CFTR protein a defect that can be targeted with pharmacological agents termed “correctors”. Correctors belong to various chemical classes but are generally small molecules based on nitrogen sulfur or oxygen heterocycles. The mechanism of action of correctors is generally unknown but there is experimental evidence that some of them can directly act on mutant CFTR improving folding and stability. Here we overview the characteristics of the various F508del correctors described so far to obtain indications on key ch…

Protein FoldingCystic FibrosisCFTR correctorMutantCystic Fibrosis Transmembrane Conductance RegulatorPyrimidinonesmedicine.disease_cause01 natural sciencesF508del-CFTR03 medical and health sciencesMutant proteinDrug DiscoverymedicineAnimalsHumansCFTR030304 developmental biologyPharmacology0303 health sciencesMutationCFTR correctorsbiology010405 organic chemistryChemistryOrganic ChemistryCFTR; CFTR correctors; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; F508del-CFTR; Animals; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Humans; Mutation; Protein Folding; Pyrimidinones; ThiazolesGeneral MedicineSettore CHIM/08 - Chimica FarmaceuticaSmall moleculeCystic fibrosis transmembrane conductance regulator0104 chemical sciencesCell biologyThiazolesMechanism of actionCystic fibrosiMutationbiology.proteinmedicine.symptomProtein Aδf508 cftrEuropean Journal of Medicinal Chemistry
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PEGYLATED POLYASPARTAMIDE–POLYLACTIDE BASED NANOPARTICLES PENETRATING CYSTIC FIBROSIS ARTIFICIAL MUCUS

2016

Here, the preparation of mucus-penetrating nanoparticles for pulmonary administration of ibuprofen in patients with cystic fibrosis is described. A fluorescent derivative of α,β-poly(N-2-hydroxyethyl)-D,L-aspartamide is synthesized by derivatization with rhodamine, polylactide, and poly(ethylene glycol), to obtain polyaspartamide− polylactide derivatives with different degrees of pegylation. Starting from these copolymers, fluorescent nanoparticles with different poly(ethylene glycol) content, empty and loaded with ibuprofen, showed spherical shape, colloidal size, slightly negative ζ potential, and biocompatibility toward human bronchial epithelial cells. The high surface poly(ethylene gly…

Polymers and PlasticsBiocompatibilityPolyestersαL-aspartamideNanoparticleBioengineeringIbuprofen02 engineering and technologyRespiratory Mucosa010402 general chemistry01 natural sciencesCell LinePolyethylene GlycolsBiomaterialsRhodaminecystic fibrosischemistry.chemical_compoundpolymeric nanoparticles cystic fibrosis αβ-poly(N-2-hydroxyethyl)-DL-aspartamideMaterials ChemistryCopolymerOrganic chemistryHumansDerivatizationβ-poly(N-2-hydroxyethyl)-Dpolymeric nanoparticles; cystic fibrosis; α; β-poly(N-2-hydroxyethyl)-D; L-aspartamide021001 nanoscience & nanotechnologyMucus0104 chemical sciencesMucuspolymeric nanoparticleschemistrySettore CHIM/09 - Farmaceutico Tecnologico ApplicativoPEGylationNanoparticles0210 nano-technologyPeptidesEthylene glycolNuclear chemistry
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COMBINING TRANSLATION READTHROUGH INDUCING DRUGS AND NONSENSE MEDIATED DECAY PATWHAY INHIBITION TO THE CFTR RESCUE IN CYSTIC FIBROSIS CELL MODEL SYST…

2021

Nonsense mutations affect 10% of patients with cystic fibrosis and produce a premature termination codon in CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) mRNA causing early termination of translation and leading to lack of CFTR function. A potential therapy for nonsense mutations provides the use of small molecules able to overcome the premature stop codon (PTC) by a readthrough mechanism that lead to synthesis a complete CFTR protein. Despite the good results obtained from this approach, TRIDs efficiency is considerably reduced by the poor amount of target transcript, that is the mRNA containing the PTC. The readthrough, indeed, does not occur on the totality of target transcr…

Settore BIO/18 - GeneticaReadthrough Stop mutations PTC CFTR Cystic Fibrosis TRIDsSettore CHIM/06 - Chimica Organica
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BIOCOMPATIBLE POLYAMINOACID-BASED POLYCATIONS AS NON-VIRAL VECTORS FOR GENE THERAPY OF CYSTIC FIBROSIS.

2009

Settore CHIM/09 - Farmaceutico Tecnologico ApplicativoPOLYCATIONS NON-VIRAL VECTORS GENE THERAPY CYSTIC FIBROSIS.
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Diagnostic accuracy of fecal elastase 1 assay in patients with pancreatic maldigestion or intestinal malabsorption: a collaborative study of the Ital…

2001

Several reports have indicated that fecal elastase-1 (EL-1) determination is a new, sensitive, and specific noninvasive pancreatic function test; however, very few patients with malabsorption due to small intestine diseases have been included in the previous studies. The aim of the study was to compare the diagnostic accuracy of fecal EL-1 and fecal chymotrypsin (FCT) in distinguishing between pancreatic maldigestion and intestinal malabsorption. Three groups of subjects were studied: group A included 49 patients with known cystic fibrosis (25 males, median age 5 years); group B included 43 subjects with various small intestine diseases (17 males, median age 6 years); and group C included 4…

AdultMaleSettore MED/09 - Medicina InternaAdolescentCystic FibrosisIntestinal giardiasiFecesSensitivityMalabsorption Syndromesspecificity; pancreatic insufficiency; sensitivity; malabsorption syndrome; intestinal giardiasis; cystic fibrosis; steatorrhea; fecal elastase-1: fecal chymotrypsin; celiac diseaseMalabsorption syndromeCeliac diseaseHumansintestinal giardiasisChildPancreatic ElastaseGastroenterologyInfant NewbornInfantPancreatic DiseasesReproducibility of ResultsClinical Enzyme TestsSteatorrheaIntestinal DiseasesCystic fibrosiChild PreschoolSpecificityFecal elastase-1: fecal chymotrypsinDigestionFemalePancreatic insufficiencyDigestive diseases and sciences
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PTC124 derivatives as a novel approach to improve the readthrough of premature stop codons in the CFTR gene.

2011

Background Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). Approximately 10% (worldwide) of patients have in-frame nonsense mutations (UAA, UAG or UGA class I mutations) in the CF trans-membrane regulator (CFTR) gene that result in premature stop codons (PTCs) in the messenger RNA (mRNA) generating truncated CFTR protein responsible for a severe CF phenotype. Pharmacological approaches have been proposed to directly overcome PTCs. Ataluren (PTC124) a small molecule that mimics the activity of aminoglycosides has been suggested to allow PTCs readthrough and to partially restore the protein function. However, des…

Settore BIO/18 - GeneticaCystic fibrosis Nonsense mutation PTC124Settore CHIM/06 - Chimica OrganicaPTC124 Cystic fibrosis.
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Ibuprofen containing mucus-penetrating nanoparticles as therapeutic tool for the treatment of inflammation in Cystic Fibrosis

2015

Ibuprofen; mucus-penetrating; nanoparticles; Cystic Fibrosismucus-penetratingCystic FibrosisIbuprofennanoparticlesIbuprofen mucus-penetrating nanoparticles Cystic Fibrosis
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Combined Bacteriophage and Antibiotic Treatment Prevents Pseudomonas aeruginosa Infection of Wild Type and cftr- Epithelial Cells

2020

International audience; With the increase of infections due to multidrug resistant bacterial pathogens and the shortage of antimicrobial molecules with novel targets, interest in bacteriophages as a therapeutic option has regained much attraction. Before the launch of future clinical trials, in vitro studies are required to better evaluate the efficacies and potential pitfalls of such therapies. Here we studied in an ex vivo human airway epithelial cell line model the efficacy of phage and ciprofloxacin alone and in combination to treat infection by Pseudomonas aeruginosa. The Calu-3 cell line and the isogenic CFTR knock down cell line (cftr-) infected apically with P. aeruginosa strain PAO…

Epithelial cell infectionMicrobiology (medical)antibiotic resistanceAntibiotic resistancemedicine.drug_classAntibioticslcsh:QR1-502BiologyPseudomonas aeruginosa; antibiotic resistance; bacteriophage; cystic fibrosis; epithelial cell infectionmedicine.disease_causeMicrobiologylcsh:MicrobiologyCystic fibrosisMicrobiologyBacteriophagecystic fibrosis03 medical and health sciencesbacteriophagemedicineddc:612BacteriophageOriginal Research030304 developmental biologyddc:6160303 health sciencesddc:618030306 microbiologyPseudomonas aeruginosaWild typeepithelial cell infectionbiology.organism_classification3. Good healthMultiple drug resistanceCiprofloxacin[SDV.MP]Life Sciences [q-bio]/Microbiology and ParasitologyCell culturePseudomonas aeruginosaEx vivo[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologymedicine.drug
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ADIPONECTIN, LEPTIN, RESISTIN LEVELS IN CYSTIC FIBROSIS ADOLESCENTS

2012

INTRODUCTION: Patients with Cystic Fibrosis, especially in adolescence, could develop endocrine and metabolic complications, related to nutritional state and chronic inflammation. They develop a progressive decrease in lean body mass correlated with the progression of lung disease. Adipose tissue is involved as well and adipocytokines are a possible link between malnutrition and long term complications. PATIENTS AND METHODS: In 24 Cystic Fibrosis adolescents we studied auxological, nutritional, glycometabolic, endocrine patterns, together with leptin, adiponectin and resistin levels. We selected patients not affected by diabetes, insulin resistance, malnutrition, acute inflammatory states s…

Settore MED/38 - Pediatria Generale E SpecialisticaAdiponectin resistin leptin Cystic Fibrosis adolescence
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Integrated computational and experimental approaches for the identification of new molecules with readthrough activity on premature termination codon…

2015

cystic fibrosiscomputational approaches; readthrough; premature stop codon; cystic fibrosisreadthroughpremature stop codoncomputational approache
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