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tRNA modification enzyme-dependent redox homeostasis regulates synapse formation and memory.
Madhwani KR, Sayied S, Ogata CH, Hogan CA, Lentini JM, Mallik M, Dumouchel JL, Storkebaum E, Fu D, O'Connor-Giles KM. Madhwani KR, et al. Among authors: lentini jm. bioRxiv [Preprint]. 2023 Nov 14:2023.11.14.566895. doi: 10.1101/2023.11.14.566895. bioRxiv. 2023. Update in: Proc Natl Acad Sci U S A. 2024 Nov 12;121(46):e2317864121. doi: 10.1073/pnas.2317864121 PMID: 38014328 Free PMC article. Updated. Preprint.
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Broly M, Polevoda BV, Awayda KM, 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 FS, Leon A, van Loon RLE, 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 SC, Pais LS, Brown N, Riazuddin S, Bézieau S, Fu D, Isidor B, Cogné B, O'Connell MR. Broly M, et al. Am J Hum Genet. 2022 Apr 7;109(4):587-600. doi: 10.1016/j.ajhg.2022.02.001. Epub 2022 Feb 22. Am J Hum Genet. 2022. PMID: 35196516 Free PMC article.
15 results