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 pathogene...

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Hlavní autoři:	Yong Zhang, Shi-Ying Yao, Jing Li, Tingting Yu, Hao Liu, Nanlin Zhu, Gui-Xin Peng, Wen-Qiang Zheng, Chun-Rui Ma, En-Duo Wang, Cui Song, Xiao-Long Zhou
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Nature Portfolio 2026-04-01
Edice:	Nature Communications
On-line přístup:	https://doi.org/10.1038/s41467-026-71750-z
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