Search results for "PTC"
showing 10 items of 122 documents
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…
X CONVENTION OF INVESTIGATORS IN CYSTIC FIBROSIS.
2012
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…
PTC124 DERIVATIVES AS A NOVEL APPROACH TO IMPROVE THE READTHROUGH OF PREMATURE AMBER AND OCHRE STOP CODONS
2013
Nucleotide changes within an exon may alter the trinucleotide normally encoding a particular amino acid, such that a new “stop” signal is transcribed into the mRNA open reading frame. This causes the ribosome to prematurely terminate its reading of the mRNA, leading to the lack of production of a normal full-length protein. Such premature termination codon (PTC) mutations occur in an estimated 10% to 15% of many genetically based disorders (1). Pathological nonsense mutations resulting in TAG (40.4%), TGA (38.5%), and TAA (21.1%) occur in different proportions to naturally occurring stop codons (2). Several genetic disorders are characterized by opal (TGA; Cystic fibrosis, Duchenne/Becker m…
A novel renewable system supplying energy and water to the island of Pantelleria
2016
In this paper a thermoeconomic analysis of a novel hybrid Renewable Polygeneration System connected to a district heating and cooling network is presented. The plant is powered simultaneously by solar and geothermal energy and capable to supply electricity, desalinated water, heat and cooling energy. System layout includes a Parabolic Through Collector (PTC) field, geothermal wells, an Organic Rankine Cycle (ORC) unit and a Multi-Effect Desalination (MED) system. A model of a typical building of Pantelleria urban area and a heating and cooling system based on fan coils have been modelled and linked to the plant model in TRNSYS environment. A detailed system control has been implemented in t…
Problem odpowiedzialności członków zarządu spółki kapitałowej za zobowiązania z tytułu składek na ubezpieczenie społeczne powstałe w czasie trwania p…
2020
<div><p>The study is devoted to the problem of management board members’ liability for social insurance contributions arising during the course of proceedings with the option of concluding an arrangement based on the provisions of both the Bankruptcy and Reorganization Law and the Restructuring Law. It defends the view that a member of the management board is not responsible for liabilities under social security contributions arising during the course of proceedings with the option of concluding an arrangement, initiated in good time, conducted on the basis of the provisions of the Bankruptcy and Reorganization Law as well as on the provisions of the Restructuring Law.</p>…
The waves of enterprises bankruptcy and the factors that determine them: the case of Latvia and Lithuania
2018
International audience; Bankruptcy of enterprises is macroeconomic issue and a phenomenon of a dynamic and competitive market economy. It results in a lot of negative effects not only for the enterprise and its employees but also for other enterprises and institutions, as well as the state and society. The aim of the article is to carry out the analysis of bankruptcy of Latvian and Lithuanian enterprises. No such study has been carried out so far. Article analyses the dynamics of Latvian and Lithuanian enterprise bankruptcy, which manifest themselves in larger waves in certain periods and the factors that influence them. From 1993-when the bankruptcy of enterprises was started to be officia…
La quiebra y el concurso de acreedores: origen, recepción y pervivencia en el sistema jurídico español
2012
La presente Tesis Doctoral sigue el método que en la Tradición romanística se le denomina estudio vertical, consistente en análisis y evolución de las figuras del Derecho romano hasta su plena recepción en nuestro vigente. A través del presente trabajo se aborda el estudio del origen de la quiebra, la recepción en el sistema jurídico español y su desarrollo histórico jurídico hasta 2012, que es cuando se finaliza el trabajo. A efectos de delimitar la institución, se ha procedido a ordenarla a través de una visión omnicomprensiva, esto es, recurriendo a una triple orientación: legal, doctrinal y documental. La amplitud histórica y textual que una obra como la presente conlleva, no pretende a…
Globālo kosmētikas franšīzes devēju bankrota iemesli.
2018
Maģistra darbs “Globālo kosmētikas franšīzes devēju bankrota iemesli” veltīts starptautiski atpazīstamu franšīzes devēju bankrotu izvērtēšanai, kā arī, ietver risku izvērtējumu, kas jāņem vērā uzņēmumiem - franšīzes devējiem, izejot starptautiskajos tirgos, kuru neizvērtēšana var novest pie uzņēmuma bankrota. Maģistra darba tēma - globālo kosmētikas franšīzes devēju bankrots, šobrīd ir ļoti aktuāla, jo 2016.gada oktobrī Latviju pāršalca ziņa, ka viens no jomas spēcīgākajiem uzņēmumiem „Attirance” bankrotēja. Tajā pašā laika periodā masu mēdijos izskanēja ziņas, ka bankrota risks pastāv arī attiecībā uz vairākiem citiem jomas uzņēmumiem, kas ir globāli kosmētikas franšīzes devēji. Darbs ietv…
Skutki uchylenia układu zawartego w postępowaniu upadłościowym dla wierzytelności objętych układem
2013
The paper deals with the question of consequences which result from annulment of the agreement concluded in bankruptcy proceedings, involving receivables which are included in the agreement. The institution of the very agreement itself and its annulment is a unique solution in the construction of the bankruptcy law. The core of the analyses is the regulation of the bankruptcy and repairing law, according to which, in the case of annulment of the agreement, in the bankruptcy proceedings that are opened, the creditors to date pursue their claims at the initial height of the latter. The due interest is accrued from the day of the validation of the decision on the annulment of the agreement. Th…
L’arbitrabilità delle azioni revocatorie e di inefficacia nella prospettiva del Codice della Crisi
2020
Tra i compiti del curatore vi è quello di ricostruire il patrimonio del debitore, al fine di garantire la par condicio creditorum. A questo scopo il curatore può proporre azioni dirette a far dichiarare la inefficacia degli atti compiuti dal debitore. Si tratta di azioni con presupposti ed effetti tra loro diversi; una azione è diretta a far dichiarare la inefficacia ex lege atti compiuti dal debitore; le altre sono lazione revocatoria ordinaria e l’azione revocatoria fallimentare. Per altro verso, il curatore potrebbe essere convenuto in azioni revocatorie dirette a fare dichiarare inefficaci atti di cui ha beneficiato il debitore prima del fallimento o la stessa curatela. In tutte queste …