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Modification and aminoacylation of human mitochondrial tRNAs
Keywords post-transcriptional modification mitochondrial translation editing mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) noncanonical functions mitochondrial diseases Get full text access Log in, subscribe or purchase for full access. References 1. Monzel, A.S. ... Multifaceted mitochondria: moving mitochondrial science beyond function and dysfunction Nat. Metab. 2023; 5:546-562 2. Anderson, S. ... Sequence and organization of the human mitochondrial genome Nature. 1981; 290:457-465 3. Suzuki, T.
Molecular pathogenesis and gene therapy-based intervention of GTPBP3-related mitochondrial disease
Abstract Mitochondrial transfer RNA (mt-tRNA) modification determines organelle translation and function. GTPBP3 and MTO1 catalyze 5-taurinomethyluridine (τm5U) modification at wobble uridine of five mt-tRNAs. τm5U hypomodification causes mitochondrial encephalomyopathy, but the underlying pathogenesis and intervention strategy due to GTPBP3 mutations are lacking.
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