Search results for "COD"
showing 10 items of 2985 documents
Optimization of a new lead promoting the readthrough of the nonsense mutations for CFTR rescue in human CF cells
2017
Optimization of a new lead promoting the readthrough of the nonsense mutations for CFTR rescue in human CF cells Laura Lentini, Raffaella Melfi, Sara Baldassano, Marco Tutone, Aldo Di Leonardo, Andrea Pace, Ivana Pibiri Department of Biological, Chemical and Pharmaceutical Sciences and Technologies (STEBICEF), University of Palermo Background and rationale Cystic Fibrosis patients with nonsense mutations in the CFTR gene have a more severe form of the disease. Nonsense mutations represent about 10% of the mutations that affect the CFTR gene and they are frequently associated to the classical F508 mutation (1). A potential treatment for this genetic alteration is to promote the translationa…
Identification and validation of novel molecules obtained by integrated computational and experimental approaches for the readthrough of PTCs in CF c…
2014
Cystic Fibrosis patients with nonsense-mutation in h-CFTR gene generally make virtually no CFTR protein and thus often have a more severe form of CF. Ataluren (PTC124) was suggested to induce read-through of premature but not normal termination codons. Despite the promising results there is not a general consensus on the mechanism of its action (protein stabilization or codon read-through) and its efficacy, the identification of new PTC124 analogues and the study of the mechanism of action may led to a new strategy for the development of a pharmacologic approach to the cure of CF.
Investigating the inhibition of FTSJ1 a tryptophan tRNA-specific 2’-O-methyltransferase by NV TRIDs, as a mechanism of readthrough in nonsense mutate…
2023
Abstract: Cystic Fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, coding for the CFTR chloride channel. About 10% of the CFTR gene mutations are "stop" mutations, which generate a Premature Termination Codon (PTC), thus synthesizing a truncated CFTR protein. A way to bypass PTC relies on ribosome readthrough, which is the ri-bosome’s capacity to skip a PTC, thus generating a full-length protein. “TRIDs” are molecules exerting ribosome readthrough; for some, the mechanism of action is still under debate. We in-vestigate a possible mechanism of action (MOA) by which our recently synthesized TRIDs, namely NV848, NV914, and NV930, could exert their r…
Electronic Health Record in Italy and Personal Data Protection.
2016
The present article deals with the Italian Electronic Health Record (hereinafter ehr), recently introduced by Act 221/2012, with a specific focus on personal data protection. Privacy issues — e.g., informed consent, data processing, patients’ rights and minors’ will — are discussed within the framework of recent e-Health legislation, national Data Protection Code, the related Data Protection Authority pronouncements and eu law. The paper is aimed at discussing the problems arising from a complex, fragmentary and sometimes uncertain legal framework on e-Health.
MHD Modeling of Accretion Processes in Young Stars with the PLUTO Code
2008
As shown by observations, many young stars (age<5-10 Myr) harbor a circumstellar disk and accrete material from it through the star-disk magnetosphere. Despite the large amount of observational data in the infrared, optical and X-ray bands, different issues regarding star-disk interactions are still yet open. Many of these issues need detailed physical models of the star-disk system for a better insight. To this end, we are developing a model describing the interaction between the accreting material and the star atmosphere, using the 3D Magneto-HydroDynamical (MHD) code PLUTO developed at the University of Torino. We plan to perform a set of demanding simulations on the PI2S2 Grid infrastru…
Il Project Financing: una realtà in crescita
2006
La finanza di progetto è un metodo di finanziamento delle infrastrutture che, originato negli ordinamenti anglosassoni, ha conosciuto rapida affermazione in molti paesi, dove il suo contributo alla realizzazione delle opere necessarie allo sviluppo economico assume sempre maggiore rilievo. Oltre a rappresentare una tecnica di finanziamento capace di ampie e diverse applicazioni, il Project Financing costituisce uno strumento coerente con gli obiettivi fissati dalla Pubblica Amministrazione, obiettivi ispirati ai principi di trasparenza e di efficienza nell’azione amministrativa e nell’allocazione delle risorse pubbliche, fondati su meccanismi di responsabilizzazione e misurabilità dell’oper…
La direzione dei lavori. La pratica amministrativa e contabile nella condotta e nel collaudo delle opere pubbliche
2008
Proposal of a Selection Criterium of Natural Accelerograms for NLRHA
2014
A selection criterion to obtain different sets of accelerograms, all of them satisfying the spectrum compatibility criteria imposed by the codes, that enable a reliable assessment of the seismic demand for a given structure is proposed. The formulation is based on a preliminary evaluation of correlations among Intensity Measure parameters for ground motion and cinematic, energetic and damage parameters describing structure non linear responses. To this aim, a modified expression of the Effective Peak Acceleration EPA* is proposed, defined over the range of structure fundamental period referring to undamaged and damaged model. The analyses are carried out analyzing the response of a three pl…
Influence of lateral load distribution in estimation of target displacement and capacity demand by pushover analysis
2010
Two simplified adaptive load patterns for conservative estimation of seismic demand in 2D frames by pushover analysis are presented. The influence of load pattern in assessment of target displacement and distribution of demand along the height of the structure is investigated by comparing results of non linear history analysis, and non linear static analysis for eccentric braced frames. Numerical analyses show that the proposed load patterns provide safe estimation of the seismic response more accurately than load patterns proposed by seismic code.
Nuovi scenari del design: meno spreco e più sobrietà
2009
Il testo considera i modelli tradizionali di crescita economica che rispondono ad un’economia di tipo lineare, nella quale si estraggono, si producono, si consumano e si eliminano le risorse. In un mondo che ha risorse limitate e che cresce globalmente dobbiamo pensare al futuro con modelli di produzione e consumo più sostenibili.