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 …
Truncated protein isoforms generate diversity of protein …
2024年4月17日 · An algorithm designed to address challenges in the systematic identification of truncated proteins reveals their widespread production in budding yeast and their contributions …
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, …
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 …
Impact of predicted protein-truncating genetic variants on the …
Genetic variants predicted to shorten the coding sequence of genes – termed protein-truncating variants (PTVs) – are typically expected to have large effects on gene function. These variants …
Truncated protein isoforms generate diversity of protein …
2024年4月17日 · Global approaches to systematically identify these isoforms by ribosome profiling and mass spectrometry have been hampered by limitations imposed by their overlap …
The path of no return--Truncated protein N-termini and current ...
We assessed the extent of N-terminal protein truncation in a global analysis of N-terminomics data and find that most proteins have N-terminally truncated proteoforms. Because N …
Truncated protein isoforms generate diversity of protein …
2023年7月14日 · Here, we develop a sensitive and robust algorithm focused on identifying N-terminally truncated proteins genome-wide, identifying 388 truncated protein isoforms, a more …
Translation initiation at in-frame start codons within annotated ORFs can generate truncated proteins. An algorithm designed to address challenges in the systematic identification of …
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). …