Around 11% of all known gene lesions causing human genetic diseases are nonsense
mutations that introduce a premature stop codon (PTC) into the protein-coding gene …

Nonsense mutations introduce a premature termination codon (PTC) and are the underlying
cause of multiple rare genetic diseases and cancers. Although certain aminoglycosides bind …

Approximately 10% of all pathological mutations are nonsense mutations that are
responsible for several severe genetic diseases for which no treatment regimens are …

In recent years, remarkable advances in the ability to diagnose genetic disorders have been
made. The identification of disease-causing genes allows the development of gene-specific …

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 …

Premature termination codons (PTCs) in the coding regions of mRNA lead to the incorrect
termination of translation and generation of non-functional, truncated proteins. Translational …

Premature termination codons (PTCs) account for 10 to 20% of genetic diseases in humans.
The gene inactivation resulting from PTCs can be counteracted by the use of drugs …

Large numbers of genetic disorders are caused by nonsense mutations for which compound-
induced readthrough of premature termination codons (PTCs) might be exploited as a …

Enhanced stop codon readthrough is a potential treatment strategy for diseases caused by
nonsense mutations. Here, we compare readthrough levels induced by three types of …

Nonsense mutations cause several genetic diseases such as cystic fibrosis, Duchenne
muscular dystrophy, β-thalassemia, and Shwachman–Diamond syndrome. These mutations …