Top-down Proteomic Characterization of Truncated Proteoforms
A top-down proteomic strategy with semi-automated analysis of data sets has proven successful for global identification of truncated proteins without the use of chemical derivatization, enzymatic manipulation, immunoprecipitation or other enrichment.
The path of no return—Truncated protein N‐termini and current …
Protein truncation is a special protein modification in that it is irreversible and so sets proteins on a path of no return. As compared to alternate translation and splicing, which are also irreversible, protein processing by proteases has very immediate consequence to the phenotype.
Nonsense mutation - Wikipedia
In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a nonsense codon, or a premature stop codon in the transcribed mRNA, and leads to a truncated, incomplete, and possibly nonfunctional protein product. [1]
Medical relevance of protein-truncating variants across 337,205 ...
2018年4月24日 · Protein-truncating variants (PTVs), genetic variants predicted to shorten the coding sequence of genes, are a promising set of variants for drug discovery since identification of PTVs that...
Protein-truncating variants - Wikipedia
Protein-truncating variants (PTVs) are genetic variants predicted to shorten the coding sequence of genes, [1] through ways like a stop-gain mutation. [2] [3] [4] [5] PTV is sometime categorized under the umbrella term frameshift or truncating variants (FTVs), which includes both PTVs and DNA variants caused by frameshift mutation.
The impact of nonsense-mediated mRNA decay on genetic disease ... - Nature
2019年10月28日 · Premature termination codons (PTCs) can result in the production of truncated proteins or the degradation of messenger RNAs by nonsense-mediated mRNA decay (NMD). Which of these outcomes...
Truncated protein isoforms generate diversity of protein …
2024年4月17日 · Here, we report a sensitive and robust algorithm that revealed the translation of 388 N-terminally truncated proteins in budding yeast—more than 30-fold more than previously known. We extensively experimentally validated them and defined two classes.
Protein-truncating variants in BSN are associated with severe …
2024年4月4日 · The rare protein-truncating variants (PTVs) detected in BSN and APBA1 have larger effects than other previously reported ExWAS genes 10, and our findings collectively suggest emerging roles for...
Elimination of truncated recombinant protein expressed in E. coli …
We describe here our observation of both full length and a truncated form of a yeast protein (Gcn5) expressed in E. coli, and the reduction or elimination of the truncated form by mutating a cryptic Shine-Dalgarno or START codon within the Gcn5 coding region.
The Protein Truncation Test - SpringerLink
The protein truncation test (PTT) (1), occasionally referred to as the in vitro synthesized-protein (IVSP) assay (2), is a method for screening the coding region of a gene for mutations that result in the premature termination of mRNA translation.