Search results for "124"
showing 10 items of 329 documents
Role of CD1A and HSP60 in the antitumoral response of oesophageal cancer
2011
Oesophageal cancer (OC) is one of the most common and severe forms of tumor. A wider knowledge of molecular mechanisms which lead to a normal epithelium becoming a neoplasm may reveal new strategies to improve treatment and outcome of this disease. In this review, we report recent findings concerning molecular events which take place during carcinogenesis of the oesophagus. In particular, we focus on the role of two molecules, CD1a and Hsp60, which are overexpressed in oesophageal and many other types of tumor. Both molecules may present tumor antigens and promote in situ the stimulation of an antitumoral immune activity. We suggest there is a synergistic action between these molecules. Fur…
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…
AZIONE READTHROUGH DI DERIVATI DEL PTC124 SU SISTEMI MODELLO CELLULARI E IN CELLULE DI EPITELIO BRONCHIALE-FC IB3.1 (CFTR F508/W1282X )
2013
Obiettivi specifici: Le mutazioni nonsenso (mutazioni STOP), un difetto genetico frequente negli individui affetti da Fibrosi Cistica (CF), causano la sintesi di proteine CFTR tronche e non funzionanti che sono associate ad un fenotipo più severo della CF (McKone EF. et al., Chest 2006). L’obiettivo del nostro studio è stato quello di disegnare derivati dell’Ataluren (PTC124), una ‘small molecule’ a cui è stata attribuita attività readthrough, e valutarne l’attività su tre differenti sistemi modello sperimentali contenenti codoni di STOP prematuri (UGA, UAG, UAA). Materiali e metodi: Sono state sintetizzate 24 molecole derivate dal PTC124 e analizzate mediante tecniche spettroscopiche per v…
Valutazione dell'azione readthorough della molecola PTC124 su sistemi modello cellulari contenenti mutazioni non senso e in cellule epiteliali bronch…
2013
Circa il 10% dei pazienti affetti da fibrosi cistica (FC) presenta nel gene CFTR mutazioni non senso (o 'stop': UGA, UAG or UAA, mutazioni di classe I) che bloccano prematuramente la sintesi della proteina. Attualmente non esiste una cura per questo tipo di mutazioni ma si sta cercando di individuare delle molecole che siano in grado di indurre la traduzione di codoni di stop prematuri (readthrough) che, rispetto a molecole già note come il G418, abbiano effetti collaterali ridotti ed una maggiore specificità per uno specifico codone. Una piccola molecola che sembra possedere una tale attività è il PTC124 (Welch, 2007). Ad oggi però non c’è ancora un consenso generale sul meccanismo di azio…
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…
CCDC 1027140: Experimental Crystal Structure Determination
2014
Related Article: L. Turunen, N. K. Beyeh, F. Pan, A. Valkonen, K. Rissanen|2014|Chem.Commun.|50|15920|doi:10.1039/C4CC07771G
CCDC 230612: Experimental Crystal Structure Determination
2004
Related Article: L.Wang, M.O.Vysotsky, A.Bogdan, M.Bolte, V.Bohmer|2004|Science|304|1312|doi:10.1126/science.1096688
Ketogenic diet does not affect strength performance in elite artistic gymnasts
2012
Abstract Background Despite the increasing use of very low carbohydrate ketogenic diets (VLCKD) in weight control and management of the metabolic syndrome there is a paucity of research about effects of VLCKD on sport performance. Ketogenic diets may be useful in sports that include weight class divisions and the aim of our study was to investigate the influence of VLCKD on explosive strength performance. Methods 8 athletes, elite artistic gymnasts (age 20.9 ± 5.5 yrs) were recruited. We analyzed body composition and various performance aspects (hanging straight leg raise, ground push up, parallel bar dips, pull up, squat jump, countermovement jump, 30 sec continuous jumps) before and after…
Global Impact of the COVID-19 Pandemic on Cerebral Venous Thrombosis and Mortality
2022
[Background and Purpose] Recent studies suggested an increased incidence of cerebral venous thrombosis (CVT) during the coronavirus disease 2019 (COVID-19) pandemic. We evaluated the volume of CVT hospitalization and in-hospital mortality during the 1st year of the COVID-19 pandemic compared to the preceding year.