Results 31 to 40 of about 9,270 (176)

Environment modulates protein heterogeneity through transcriptional and translational stop codon readthrough

Nature Communications
Stop codon readthrough events give rise to longer proteins, which may alter the protein’s function, thereby generating short-lasting phenotypic variability from a single gene.
Maria Luisa Romero Romero, Jonas Poehls, Anastasiia Kirilenko, Doris Richter, Tobias Jumel, Anna Shevchenko, Agnes Toth-Petroczy   +6 more
doaj   +4 more sources

Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis. [PDF]

Stem Cell Reports, 2022
Leung A, Sacristan-Reviriego A, Perdigão PRL, Sai H, Georgiou M, Kalitzeos A, Carr AF, Coffey PJ, Michaelides M, Bainbridge J, Cheetham ME, van der Spuy J.   +11 more
europepmc   +2 more sources

Dbp5/DDX19 between Translational Readthrough and Nonsense Mediated Decay. [PDF]

Int J Mol Sci, 2020
The DEAD-box protein Dbp5 (human DDX19) remodels RNA-protein complexes. Dbp5 functions in ribonucleoprotein export and translation termination. Termination occurs, when the ribosome has reached a stop codon through the Dbp5 mediated delivery of the eukaryotic termination factor eRF1.
Beißel C, Grosse S, Krebber H.
europepmc   +5 more sources

Novel Correctors and Potentiators Enhance Translational Readthrough in CFTR Nonsense Mutations. [PDF]

Am J Respir Cell Mol Biol, 2021
Premature-termination codons (PTCs) in CFTR (cystic fibrosis [CF] transmembrane conductance regulator) result in nonfunctional CFTR protein and are the proximate cause of ∼11% of CF-causing alleles, for which no treatments exist. The CFTR corrector lumacaftor and the potentiator ivacaftor improve CFTR function with terminal PTC mutations and enhance ...
Mutyam V, Sharma J, Li Y, Peng N, Chen J, Tang LP, Falk Libby E, Singh AK, Conrath K, Rowe SM.   +9 more
europepmc   +3 more sources

Translation readthrough mitigation [PDF]

Nature, 2016
A fraction of ribosomes engaged in translation will fail to terminate when reaching a stop codon, yielding nascent proteins inappropriately extended on their C termini. Although such extended proteins can interfere with normal cellular processes, known mechanisms of translational surveillance are insufficient to protect cells from potential dominant ...
Arribere, Joshua A, Cenik, Elif S, Jain, Nimit, Hess, Gaelen T, Lee, Cameron H, Bassik, Michael C, Fire, Andrew Z   +6 more
openaire   +4 more sources

Drug-induced eRF1 degradation promotes readthrough and reveals a new branch of ribosome quality control

Cell Reports, 2023
Summary: Suppression of premature termination codons (PTCs) by translational readthrough is a promising strategy to treat a wide variety of severe genetic diseases caused by nonsense mutations. Here, we present two potent readthrough promoters—NVS1.1 and
Lukas-Adrian Gurzeler, Marion Link, Yvonne Ibig, Isabel Schmidt, Olaf Galuba, Julian Schoenbett, Christelle Gasser-Didierlaurant, Christian N. Parker, Xiaohong Mao, Francis Bitsch, Markus Schirle, Philipp Couttet, Frederic Sigoillot, Jana Ziegelmüller, Anne-Christine Uldry, Wojciech Teodorowicz, Niko Schmiedeberg, Oliver Mühlemann, Jürgen Reinhardt   +18 more
doaj   +1 more source

Robustness by intrinsically disordered C-termini and translational readthrough. [PDF]

Nucleic Acids Res, 2018
AbstractDuring protein synthesis genetic instructions are passed from DNA via mRNA to the ribosome to assemble a protein chain. Occasionally, stop codons in the mRNA are bypassed and translation continues into the untranslated region (3′-UTR). This process, called translational readthrough (TR), yields a protein chain that becomes longer than would be ...
Kleppe AS, Bornberg-Bauer E.
europepmc   +6 more sources

Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches. [PDF]

Int J Mol Sci, 2020
The fidelity of protein synthesis, a process shaped by several mechanisms involving specialized ribosome regions and external factors, ensures the precise reading of sense and stop codons. However, premature termination codons (PTCs) arising from mutations may, at low frequency, be misrecognized and result in PTC suppression, named ribosome readthrough,
Lombardi S, Testa MF, Pinotti M, Branchini A.   +3 more
europepmc   +3 more sources

Ribosomal readthrough at a short UGA stop codon context triggers dual localization of metabolic enzymes in Fungi and animals. [PDF]

PLoS Genetics, 2014
Translation of mRNA into a polypeptide chain is a highly accurate process. Many prokaryotic and eukaryotic viruses, however, use leaky termination of translation to optimize their coding capacity.
Alina C Stiebler, Johannes Freitag, Kay O Schink, Thorsten Stehlik, Britta A M Tillmann, Julia Ast, Michael Bölker   +6 more
doaj   +1 more source

Recoding of Nonsense Mutation as a Pharmacological Strategy

Biomedicines, 2023
Approximately 11% of genetic human diseases are caused by nonsense mutations that introduce a premature termination codon (PTC) into the coding sequence. The PTC results in the production of a potentially harmful shortened polypeptide and activation of a
Gazmend Temaj, Pelin Telkoparan-Akillilar, Nexhibe Nuhii, Silvia Chichiarelli, Sarmistha Saha, Luciano Saso   +5 more
doaj   +1 more source