The tumour suppressor gene TP53 is the most frequently mutated gene in cancer. Wild-type
p53 can suppress tumour development by multiple pathways. However, mutation of TP53 …

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 codon (PTC) readthrough is considered a potential treatment for
genetic diseases caused by nonsense mutations. High concentrations of aminoglycosides …

About 11% of all human disease-associated gene lesions are nonsense mutations, resulting
in the introduction of an in-frame premature translation-termination codon (PTC) into the …

Eukaryotic ribosome and cap-dependent translation are attractive targets in the antitumor,
antiviral, anti-inflammatory, and antiparasitic therapies. Currently, a broad array of small …

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder
caused by the lack of functional type VII collagen, leading to skin fragility and subsequent …

Recognition of the stop codon by the translation machinery is essential to terminating
translation at the right position and to synthesizing a protein of the correct size. Under certain …

Cystic fibrosis (CF) is a monogenic autosomal recessive disorder. The clinical
manifestations of the disease are caused by∼ 2,000 mutations in the cystic fibrosis …

The introduction of premature termination codons (PTCs), as a result of splicing defects,
insertions, deletions, or point mutations (also termed nonsense mutations), lead to …

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 …