Reactive oxygen species, such as superoxide and hydrogen peroxide, are generated in all
cells by mitochondrial and enzymatic sources. Left unchecked, these reactive species can …

Nonsense-mediated decay (NMD) eliminates mRNAs containing premature termination
codons and thus helps limit the synthesis of abnormal proteins. New results uncover a …

Background Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR)
gene containing a premature termination signal cause a deficiency or absence of functional …

Eukaryotic cells utilize various RNA quality control mechanisms to ensure high fidelity of
gene expression, thus protecting against the accumulation of nonfunctional RNA and the …

Aminoglycosides can readthrough premature termination codons (PTCs), permitting
translation of full-length proteins. Previously we have found variable efficiency of …

Corneal transparency is dependent on regulation of the hydration of the corneal stroma.
Water is driven into the cornea across the epithelial and endothelial cell layers by the …

Nonsense mutations inactivate gene function and are the underlying cause of a large
percentage of the individual cases of many genetic disorders. PTC124 is an orally …

NMD (nonsense-mediated mRNA decay) belongs to the best-studied mRNA surveillance
systems of the cell, limiting the synthesis of truncated and potentially harmful proteins on the …

Approximately one-third of alleles causing genetic diseases carry premature termination
codons (PTCs), which lead to the production of truncated proteins. The past decade has …

Nonsense codons, generated from nonsense mutations or frameshifts, contribute
significantly to the spectrum of inherited human diseases such as cystic fibrosis, Duchenne …