Journal
TRENDS IN BIOCHEMICAL SCIENCES
Volume 45, Issue 4, Pages 308-320Publisher
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tibs.2019.12.009
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Funding
- Horizon 2020 Programme of the European Union [823839]
- [G008018N]
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The collection of chemically different protein variants, or proteoforms, by far exceeds the number of protein-coding genes in the human genome. Major contributors are altemative splicing and protein modifications. In this review, we focus on those proteoforms that differ at their N termini with a molecular link to disease. We describe the main underlying mechanisms that give rise to such N-terminal proteoforms, these being splicing, initiation of protein translation, and protein modifications. Given their role in several human diseases, it is becoming increasingly clear that several of these N-terminal proteoforms may have potential as therapeutic interventions and/or for diagnosing and prognosing their associated disease.
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