Multi-System Morbid Disease Associated With Mutations Ostensibly Affecting Non-Protein Synthesis Activities Of A tRNA Synthetase
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About The Author

Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist who directs the DISCOVER and TREATMENT programs at Columbia University and performs human genetic research. She is a tenured professor of pediatrics and medicine. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics.

                       

Multi-System Morbid Disease Associated With Mutations Ostensibly Affecting Non-Protein Synthesis Activities Of A tRNA Synthetase

Aminoacyl-tRNA synthetases (aaRSs) are a family of ancient enzymes. Their primary function is to build proteins by loading up the proper amino acids to charging transfer ribonucleic acids (tRNAs). In recent decades, this protein family has been increasingly studied for non-classical functions beyond protein synthesis. In humans, this family of proteins is encoded by 37 genes, with 17 encoding the cytoplasmic aaRSs, 17 encoding the mitochondrial forms, and 3 bi-functional aaRSs functioning in both cytoplasm and mitochondria. Up until 2017,...

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