Search results for "ADT"
showing 10 items of 92 documents
Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts
2021
Abstract Background Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy and renal abnormalities. Together with Alstrom syndrome (AS), they are known as the ‘obesity ciliopathies’ due to their common phenotype. Nonsense mutations are responsible for approximately 11% and 40% of BBS and AS cases, respectively. Translational readthrough inducing drugs (TRIDs) can restore full-length protein bypassing in-frame premature termination codons, and are a potential therapeutic approach for nonsense-mediated ciliop…
Kampania wielkopolska i kujawska Chryzostoma Jana Niemiry Gniazdowskiego
2020
W pracy przedstawiony został przebieg kampanii wielkopolsko-kujawskiej, która trwała dziewięć miesięcy, od lutego do października 1716 r. Przyjętym przez tarnogrodzian celem było rozszerzenie związku konfederackiego na Wielkopolskę właściwą, a następnie Kujawy i Pomorze. Poprowadzona została przez regimentarza, pułkownika Chryzostoma Jana Niemirę Gniazdowskiego - jeśli nie najzdolniejszego, to niewątpliwe najbardziej rzutkiego, skorego do podejmowania ryzykownych akcji, a przy tym skutecznego dowódcę konfederackiego. Jego przeciwnikiem były wojska królewskie złożone z oddziałów saski i polskich, dowodzone przez generała porucznika Kaspra von Seidlitz oraz generałów majorów Aleksandra Dietri…
Arte Tedesca e Arte Degenerata. Aspetti della politica culturale del Terzo Reich
2011
Il saggio prende le mosse dalle iniziative intraprese da Joseph Goebbels nell'ambito dell'organizzazione culturale in Germania, durante i primi mesi del "nuovo corso" nazista. Fra i vari temi, vengono affrontate le questioni relative alle rapporto con la cultura della Repubblica di Weimar, alle grandi mostre di Monaco (Entartete Kunst, 1937) e Duesselforf (Entartete Musik, 1938), nonché della produzione musicale all'interno del ghetto di Theresienstadt.
Nonsense codons suppression. An acute toxicity study of three optimized TRIDs in murine model, safety and tolerability evaluation.
2022
Stop mutations cause 11% of the genetic diseases, due to the introduction of a premature termination codon (PTC) in the mRNA, followed by the production of a truncated protein. A promising therapeutic approach is the suppression therapy by Translational Readthrough Inducing Drugs (TRIDs), restoring the expression of the protein. Recently, three new TRIDs (NV848, NV914, NV930) have been proposed, and validated by several in vitro assays, for the rescue of the CFTR protein, involved in Cystic Fibrosis disease. In this work, an acute toxicological study for the three TRIDs was conducted in vivo on mice, according to the OECD No.420 guidelines. Animals were divided into groups and treated with …
La voce dei sommersi. Destino della musica europea negli anni del nazismo
2002
Il saggio traccia un quadro della politica culturale nazista nell'ambito della musica, con particolare riferimento alla mostra Entartete Musik ("Musica degenerata", 1938) e ai compositori attivi nel ghetto di Theresienstadt. L'ultimo capitolo è dedicato ai percorsi biografici e artistici di Viktor Ullmann e alla genesi, alla drammaturgia e ai caratteri musicali dell'opera in un atto "Der Kaiser von Atlantis" (L'Imperatore di Atlantide, 1943-44).
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…
RESCUE OF LRBA GENE EXPRESSION IN PRIMARY HUMAN FIBROBLASTS CHARACTERISED BY NONSENSE MUTATION c. 5047 (C>T).
2021
Primary immunodeficiencies (PIDs) are rare genetic diseases characterized by susceptibility to infections, increased risk of autoimmunity, hypogammaglobulinemia, and lymphoproliferative syndromes. PIDs are associated to genetic alterations in about 400 known genes, among which, mutations of the LRBA gene. LRBA gene encodes a widely expressed multi-domain protein with highly conserved BEACH domain, involved in regulation of endosomal trafficking, particularly endocytosis of ligand-activated receptors. It was reported that stop mutations affect this gene leading to the loss of the protein expression. Recently, we identified three Translational Readthrough Inducing Drug (TRID), that showed hig…
Die alte Domschule und das daraus hervorgegangene Stadt-Gymnasium zu Riga: zur Erinnerung an die erste Begründung der Domschule vor 700 Jahren und an…
1910
Inhalt: 1. Teil. 1211-1804 in zweiter, bedeutend erweiterter Auflage ; 2. Teil. 1804-1896.
Beitrag zur Gebäude-Statistik der Stadt Riga für das Jahr 1866
1868
Vorwort. I. Capitel. Die Zahl und Nutzung der Gebäude II. Capitel. Der Besitzstand der Gebäude III. Die Besteuerung der Gebäude IV. Capitel. Die Wohnungen. Anhang 1. Instruction zur Abschätzung sämmtlicher Immobilien im Polizeibezirk der Stadt Riga. Anhang 2. Uebersicht über die nach Zimmerzahl, Höhenlage und Miethzins gegliederten Wohnungen, Buden und Kellerräume in den einzelnen Quartalen der Stadt. Tabelle I-XXI
Bericht des permanenten Sanitäts-Comité der Stadt Riga über seine Wirksamkeit im Jahre 1878
1879
Inhalt: Einleitung ; I. Die Maßnahmen gegen drohende Epidemien ; II. Die Verunreinigungen der Straßen, Höfe, Plätze etc. ; III. Die fließenden und stagnirenden Gewässer ; IV. Die Latrinen und deren Vereinigung ; V. Die Fabriken und gewerblichen Anlagen ; VI. Das Leichen- und Beerdigungswesen ; VII. Die Bibliothek ; BEILAGE : 1. Bericht über den Stadtkanal / Dr. E. Bochmann, F. Weber, H. Malcher ; 3. Untersuchungsresultate der dem Stadtkanal entnommenen Schlammproblem ; 2. Bericht über die W. Franz'sche Knochenküche / Dr. J. Stavenhagen, Berichterstatter, Dr. Gehewe, F. Weber.