Summary
This project aims to systematically investigate the role of aminoacyl-tRNA synthetase (ARS) alleles in human inherited diseases, define their pathogenic mechanisms, and understand their broader functions and regulation in mammalian cells.
Defining the Role of Aminoacyl-tRNA Synthetases in Human Health and Disease
US · IL
NIH
grant
awarded
#nih-2R35GM136441-06
What they want
The project will address critical questions over the next five years, including identifying the full complement of pathogenic ARS alleles in dominant and recessive disease, distinguishing pathogenic versus non-pathogenic ARS variants, understanding how ARS loci are regulated, and mapping the complete repertoire of ARS functions in mammalian cells. This research will employ multiple established and complementary model systems.
Deliverables
- Data providing insight into the molecular pathology of disease-associated ARS alleles
- Defined molecular mechanisms of ARS-associated diseases to facilitate patient diagnosis
- Improved understanding of ARS biology and how specific ARS alleles cause human diseases
Technical requirements
- Utilization of computational model systems
- Utilization of biochemical model systems
- Utilization of cellular model systems
- Utilization of yeast model systems
- Utilization of worm model systems
- Utilization of mouse model systems
