Considering that the W402X mutation is located in exon 9 of theIDUAgene and the splice acceptor site of this exon is a mere 15 bp away from this mutation, we chose 85-C-15 as a candidate arRNA for further optimization to circumvent interference with RNA splicing. We also tested whether ...
Our predictions are based on the information loss score D which defines a normalized ratio of the information content S of the protein without (i.e. the WT) and with the mutation (mutant). The larger the score D is the greater is the information loss due to the mutation. We use this ...
Ackerman JP,Smestad JA,Tester DJ,et al.Whole exome sequencing,familial genomic triangulation,and systems biology converge to identify a novel nonsense mutation in TAB2-encoded TGF-beta activated kinase 1 in a child with polyvalvular syndrome[J].Congenit Heart Dis,2016,11(5):452-461....
Nonsense-mediated decay is well known by the lucid definition of being a RNA surveillance mechanism that ensures the speedy degradation of mRNAs containing premature translation termination codons. However, as we review here, NMD is far from being a simple quality control mechanism; it also regulates...
a tumor suppressor gene can experience an NMD-resistant mutation, leading to a dominant-negative protein that hampers the wild-type function.cThe tumor microenvironment modulates NMD in order to overcome different types of cellular stresses associated with the unconstrained growth of the tumor. Stresses...
The loss of arginine decarboxylase activity in the AaxB protein from L2/434 was predicted due to a nonsense mutation, but the inactivation of D/UW-3 AaxB was not obvious from the protein sequence. Nor could we predict that the L2/434 AaxC would be inactive, while the D/UW-3 AaxC wo...
The loss of arginine decarboxylase activity in the AaxB protein from L2/434 was predicted due to a nonsense mutation, but the inactivation of D/UW-3 AaxB was not obvious from the protein sequence. Nor could we predict that the L2/434 AaxC would be inactive, while the D/UW-3 AaxC wo...