Results 61 to 70 of about 12,504 (200)

Nonsense mutation suppression is enhanced by targeting different stages of the protein synthesis process.

PLoS Biology, 2023
The introduction of premature termination codons (PTCs), as a result of splicing defects, insertions, deletions, or point mutations (also termed nonsense mutations), lead to numerous genetic diseases, ranging from rare neuro-metabolic disorders to ...
Amnon Wittenstein, Michal Caspi, Ido Rippin, Orna Elroy-Stein, Hagit Eldar-Finkelman, Sven Thoms, Rina Rosin-Arbesfeld   +6 more
doaj   +1 more source

Effect of small molecule eRF3 degraders on premature termination codon readthrough

Nucleic Acids Research, 2021
Premature termination codon (PTC) readthrough is considered a potential treatment for genetic diseases caused by nonsense mutations. High concentrations of aminoglycosides induce low levels of PTC readthrough but also elicit severe toxicity.
Alireza Baradaran-Heravi, A. Balgi, S. Hosseini-Farahabadi, Kunho Choi, C. Has, M. Roberge   +5 more
semanticscholar   +1 more source

Yeast applied readthrough inducing system (YARIS): an invivo assay for the comprehensive study of translational readthrough [PDF]

Nucleic Acids Research, 2019
AbstractStop codon readthrough—the decoding of a stop codon by a near-cognate tRNA—is employed by viruses to balance levels of enzymatic and structural proteins and by eukaryotic cells to enable isoform-specific protein synthesis in response to external stimuli.
Beznosková, P. (Petra), Pavlíková, Z. (Zuzana), Zeman, J. (Jakub), Aitken, C.E., Valášek, L. (Leoš Shivaya)   +4 more
openaire   +3 more sources

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

Stem Cell Reports, 2022
Summary Leber congenital amaurosis type 4 (LCA4), caused by AIPL1 mutations, is characterized by severe sight impairment in infancy and rapidly progressing degeneration of photoreceptor cells. We generated retinal organoids using induced pluripotent stem
A. Leung, Almudena Sacristán-Reviriego, P. Perdigão, Hali Sai, M. Georgiou, A. Kalitzeos, A. Carr, P. Coffey, M. Michaelides, J. Bainbridge, M. Cheetham, J. van der Spuy   +11 more
semanticscholar   +1 more source

Peroxisomal lactate dehydrogenase is generated by translational readthrough in mammals

eLife, 2014
Translational readthrough gives rise to low abundance proteins with C-terminal extensions beyond the stop codon. To identify functional translational readthrough, we estimated the readthrough propensity (RTP) of all stop codon contexts of the human ...
Fabian Schueren, Thomas Lingner, Rosemol George, Julia Hofhuis, Corinna Dickel, Jutta Gärtner, Sven Thoms   +6 more
doaj   +1 more source

Photoinduced Selective Construction of Densely Functionalized Spirocyclic Ethers With Carbyne Equivalents

Angewandte Chemie, Volume 138, Issue 18, 27 April 2026.
A reactivity programmed cascade between carbyne equivalents and allylic benzoates was developed that sequentially orchestrates all three reactivity modes of carbyne equivalents, enabling the rapid installation of three σ‐bonds at a single carbon center and providing efficient, scalable access to structurally diverse spirocyclic ethers. ABSTRACT Carbyne
Jianke Su, Chu Wang, Zhongping Cai, Jiale Wu, Xu Yan Chen, Jie Wu   +5 more
wiley   +2 more sources

A High-Throughput Assay for In Vitro Determination of Release Factor-Dependent Peptide Release from a Pretermination Complex by Fluorescence Anisotropy—Application to Nonsense Suppressor Screening and Mechanistic Studies

Biomolecules, 2023
Premature termination codons (PTCs) account for ~12% of all human disease mutations. Translation readthrough-inducing drugs (TRIDs) are prominent among the several therapeutic approaches being used to overcome PTCs.
Mikel D. Ghelfi, Saleem Y. Bhat, Hong Li, Barry S. Cooperman   +3 more
doaj   +1 more source

Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases

Acta Dermato-Venereologica, 2022
Nonsense mutations cause the premature termination of protein translation via premature termination codons (PTCs), leading to the synthesis of incomplete functional proteins and causing large numbers of genetic disorders.
Jiangfan Yu, Bingsi Tang, Xinglan He, Puyu Zou, Zhuotong Zeng, Rong Xiao   +5 more
doaj   +1 more source

Nonselective TRPC channel inhibition and suppression of aminoglycoside-induced premature termination codon readthrough by the small molecule AC1903

Journal of Biological Chemistry, 2022
Nonsense mutations, which occur in ∼11% of patients with genetic disorders, introduce premature termination codons (PTCs) that lead to truncated proteins and promote nonsense-mediated mRNA decay. Aminoglycosides such as G418 permit PTC readthrough and so
Alireza Baradaran-Heravi, Claudia C. Bauer, Isabelle B. Pickles, S. Hosseini-Farahabadi, A. Balgi, Kunho Choi, D. Linley, D. Beech, M. Roberge, R. Bon   +9 more
semanticscholar   +1 more source

Functional Translational Readthrough: A Systems Biology Perspective

PLOS Genetics, 2016
Translational readthrough (TR) has come into renewed focus because systems biology approaches have identified the first human genes undergoing functional translational readthrough (FTR). FTR creates functional extensions to proteins by continuing translation of the mRNA downstream of the stop codon.
Fabian Schueren, Sven Thoms
openaire   +5 more sources