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    • THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder 

      Broly, M.; Polevoda, B. V.; Awayda, K. M.; Tong, N.; Lentini, J.; Besnard, T.; Deb, W.; O'Rourke, D.; Baptista, J.; Ellard, S.; Almannai, M.; Hashem, M.; Abdulwahab, F.; Shamseldin, H.; Al-Tala, S.; Alkuraya, F. S.; Leon, A.; van Loon, R. L. E.; Ferlini, A.; Sanchini, M.; Bigoni, S.; Ciorba, A.; van Bokhoven, H.; Iqbal, Z.; Al-Maawali, A.; Al-Murshedi, F.; Ganesh, A.; Al-Mamari, W.; Lim, S. C.; Pais, L. S.; Brown, N.; Riazuddin, S.; Bézieau, S.; Fu, D.; Isidor, B.; Cogné, B.; O'Connell, M. R. (Cell Press, 2022-02-11)
      Covalent tRNA modifications play multi-faceted roles in tRNA stability, folding, and recognition, as well as the rate and fidelity of translation, and other cellular processes such as growth, development, and stress ...