The present invention relates to functional proteins encoded by nucleic acid sequences comprising a nonsense mutation.
Novel food-grade cloning vectors comprising a nonsense mutation suppressor-encoding gene, which vector, when it is present in a lactic acid bacterial strain, permits such a strain to have an industrially appropriate growth rate and metabolic activity.
The invention also relates to methods of identifying molecules that inhibit the nonsense-mediated mRNA decay pathway, and the use of such molecules for treatment of disorders associated with nonsense mutations.
A method of treating an individual having a disorder caused by formation of an RNA transcript carrying a nonsense mutation is provided.
More particularly, the present invention relates to methods, compounds, and compositions for suppressing premature translation termination associated with a nonsense mutation in an mRNA.
The present invention relates to the compound of formula (I) for use in the treatment of a nonsense-mutation-mediated genetic disease.
Furthermore, mof4-1 is allelic to UPF1, which has been demonstrated to be involved in the nonsense-mediated mRNA decay pathway.
Although cells harboring the mof4-1 allele lose the M1 virus, the other f alleles (i.e., upf1, upf2 and upf3) involved in nonsense-mediated mRNA decay maintain M1.
The invention relates to the discovery of a gene, NMD2, named after its role in the Nonsense-Mediated mRNA Decay pathway, and the protein, Nmd2p, encoded by the NMD2 gene.
A C-terminal fragment of the protein is also shown to bind Upf1p and, when overexpressed in the host cell, the fragment inhibits the function of Upf1p, thereby inhibiting the nonsense-mediated mRNA decay pathway.