mRNA-based immunotherapy platform targeting endometrial cancer. [PDF]
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Protein C-terminal variations impact proteostasis. [PDF]
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Prime editing-installed suppressor tRNAs for disease-agnostic genome editing. [PDF]
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Identification of small molecules that enhance aminoglycoside-mediated suppression of <i>CFTR</i> and <i>NF1</i> nonsense mutations. [PDF]
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Cancer syndromes and therapy by stop-codon readthrough
Trends in Molecular Medicine, 2012Several hereditary cancer syndromes are associated with nonsense mutations that create premature termination codons (PTC). Therapeutic strategies involving readthrough induction partially restore expression of proteins with normal function from nonsense-mutated genes, and small molecules such as aminoglycosides and PTC124 have exhibited promising ...
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Readthrough of dystrophin stop codon mutations induced by aminoglycosides
Annals of Neurology, 2004AbstractWe report the translational readthrough levels induced by the aminoglycosides gentamicin, amikacin, tobramycin, and paromomycin for eight premature stop codon mutations identified in Duchenne's and Becker's muscular dystrophy patients. In a transient transfection reporter assay, aminoglycoside treatment results show that one stop codon mutation
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Mammalian proteome expansion by stop codon readthrough
WIREs RNA, 2022AbstractRecognition of a stop codon by translation machinery as a sense codon results in translational readthrough instead of termination. This recoding process, termed stop codon readthrough (SCR) or translational readthrough, is found in all domains of life including mammals.
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