A nonsense mutation is a point mutation in a sequence of the messenger RNA (mRNA) that results in a premature stop codon (PTC). As a result, the protein translation process is terminated and a truncated, incomplete, and usually nonfunctional protein is the final product. Since these proteins are responsible for many essential processes in the body, a nonsense mutation can cause a deadly genetic disease.
Eloxx compounds demonstrate the ability to restore full-length functional proteins in genetic diseases. Eloxx compounds bind to the ribosome, facilitating read-through of premature stop codons and enabling translation of full-length functional proteins.