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Sense from nonsense: therapies for premature stop codon diseases

Trends in Molecular Medicine, 2012
Ten percent of inherited diseases are caused by premature termination codon (PTC) mutations that lead to degradation of the mRNA template and to the production of a non-functional, truncated polypeptide. In addition, many acquired mutations in cancer introduce similar PTCs.
Laure, Bidou   +3 more
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How stop codon pseudouridylation induces nonsense suppression

Computational and Theoretical Chemistry, 2021
Abstract Nonsense mutation can be an inherited disorder or caused by genetic mutation under certain conditions such as stress or exposure. Nonsense suppression, can have a broad potential as a therapeutic approach to nonsense mutation. Pseudouridine is proposed to result in nonsense suppression if induced in one of the three nonsense codons, Amber ...
Hadieh Monajemi, Sharifuddin M. Zain
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Unassigned or Nonsense Codons in Micrococcus luteus

Journal of Molecular Biology, 1993
We previously reported that in Micrococcus luteus, a Gram-positive eubacterium with high genomic G + C content, certain codons ending with A did not appear in coding frames, including termination sites, and tRNAs that translate these codons were not detected. These facts suggest that at least some of them are unassigned (nonsense) codons, i.e.
A, Kano, T, Ohama, R, Abe, S, Osawa
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Nonsense codons and polarity in the tryptophan operon

Journal of Molecular Biology, 1966
Abstract Amber and ochre mutants and mutants with cross-reacting material for all five genes of the tryptophan operon have been isolated and characterized. Co-ordinate enzyme formation was examined under repression conditions with a repressordeficient stock of each mutant.
C, Yanofsky, J, Ito
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The BRCA2 polymorphic stop codon: stuff or nonsense?

Journal of Medical Genetics, 2015
Background Despite classification of the BRCA2c.9976A>T, p.(Lys3326Ter) variant as a polymorphism, it has been associated with increased risks of pancreatic, lung, oesophageal and breast cancer. Methods We have noticed multiple co-occurrences of ...
Higgs, J E   +7 more
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Yeast mitochondrial tRNATrp can recognize the nonsense codon UGA

Nature, 1980
DNA sequence analysis of mitochondrial genes that code for some mitochondrial proteins has suggested that the opal terminator, UGA, is used as a sense codon in mitochondria. The complete sequences of both the yeast and human genes coding for cytochrome oxidase subunit II contain UGA codons in the reading frame.
N C, Martin   +4 more
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Identification of nonsense codons in yeast

Journal of Molecular Biology, 1969
Abstract Two nonsense codons have been found in Saccharomyces cerevisiae . The codons differ by a single base and only one contains guanine. Accepting the universality of the genetic code, one can deduce that these are amber and ochre codons since there exist suppressors capable of acting upon either class of nonsense alleles.
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Codon context effects on nonsense suppression in human cells

Biochemical Society Transactions, 1993
Carter, P. W., Hartkus, J. M. and Calvo, J. M. (1986) Proc.Natl.Acad.Sci. U.S.A.83,8127-8131 Gabain, A. v., Helasco, J. G.. Schottel, J. I,., Chang, A. C. Y. and Cohen. S. N. (1983) Proc. Natl. Acad. Sci. [J.S.A. 80, 653-657 Petersen, C. (1987) MGG Mol. Gen. Genet. 209, 179187 Spaniard. K. A., Chen, K., Walker, J. K. and van Lhin, J.
R, Martin   +3 more
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Nonsense-codon-mediated decay in human hereditary complement C3 deficiency

Immunogenetics, 2004
C3 occupies a central position in the complement pathway, mediating such diverse functions as convertase activity, opsonization and anaphylotoxin production. The deficiency of this protein is a rare autosomal recessive inherited disease, characterized by severe recurrent infections and immune complex disorders.
Edimara S, Reis   +2 more
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Effects of surrounding sequence on the suppression of nonsense codons

Journal of Molecular Biology, 1983
Using a lacI-Z fusion system, we have determined the efficiency of suppression of nonsense codons in the I gene of Escherichia coli by assaying beta-galactosidase activity. We examined the efficiency of four amber suppressors acting on 42 different amber (UAG) codons at known positions in the I gene, and the efficiency of a UAG suppressor at 14 ...
MILLER J. H, ALBERTINI, ALESSANDRA
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