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However, the FBN1 mutation in that family lead to nonsense mediated decay of the mutant transcript, not being able to exert a dominant-negative effect.

We previously used this methodology to show that BM specimens had predominant expression of either A or B alleles relative to the O allele, probably due to nonsense mediated decay of the O allele [41].

Even though it is transcribed in cells other than neurons, a PTB-induced exon skipping event leads to Nonsense Mediated Decay of the bulk of nPTB mRNA in non-neuronal cells [24], [25].

Using in situ hybridization (ISH) we also found that the level of dbh mRNA in dbh−/ − larvae is much lower than in their dbh+/ − siblings, presumably due to nonsense mediated decay of the mutant transcript (Isken and Maquat, 2007).

As the myotonia observed in DM1 has been hypothesized to result primarily from Clc-1 splice errors and a concomitant reduction of RNA steady-state levels due to nonsense mediated decay of aberrantly spliced Clc-1 RNAs (Mankodi et al., 2002) we tested if Clc-1 splice defects are enhanced in Mbnl1 ΔE3/ΔE3/mice3 ΔE2 mice.

The mutation results in non-sense mediated decay of the HACD1 mRNA to 31% of control levels in patient muscle and completely abrogates the enzymatic activity of dehydration of 3-hydroxyacyl-CoA, the third step in the elongation of very long-chain fatty acids (VLCFAs).

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Similar(47)

Therefore, MazF-mediated decay of host factors could impact circuit functions.

We show that disruption of DISC1 near the site of the translocation results in decreased DISC1 protein levels because of nonsense-mediated decay of long splice variants.

In strains showing reduced message levels, we have identified an intronic SNP that activates a cryptic splice site leading to aberrant splicing, followed by nonsense-mediated decay of the message.

Generally, low levels of CHM mRNA could be explained by nonsense-mediated decay of the transcript [31].

Matsui et. al. [13] have reported that Bim-mediated apoptosis is prevented in an IL-3 dependent B-cell line by IL-3-mediated decay of Bim transcript.

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