Nonsense suppression therapy encompasses approaches aimed at suppressing translation
termination at in-frame premature termination codons (PTCs, also known as nonsense …

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

Introduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations
are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of …

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 …

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 …

During protein synthesis, nonsense mutations, resulting in premature stop codons (PSCs),
produce truncated, inactive protein products. Such defective gene products give rise to many …

Acyl-CoA: glycerol-3-phosphate acyltransferase (GPAT) and acyl-CoA: 1-acyl-glycerol-3-
phosphate acyltransferase (AGPAT) are involved in the de novo synthesis of triacylglycerol …

Nonsense mutations, generating premature termination codons (PTCs), account for 10% to
30% of the mutations in tumor suppressor genes. Nonsense translational suppression …

Around 12% of hereditary disease-causing mutations are in-frame nonsense mutations. The
expression of genes containing nonsense mutations potentially leads to the production of …

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 …