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Article

Molecular pathogenesis and gene therapy-based intervention of GTPBP3-related mitochondrial disease.

Nature communications - 9 Apr 2026

Zhang Yong, Yao Shi-Ying, Li Jing, Yu Tingting, Liu Hao, Zhu Nanlin, Peng Gui-Xin, Zheng Wen-Qiang, Ma Chun-Rui, Wang En-Duo, Song Cui, Zhou Xiao-Long

Abstract excerpt

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. In this study, we identify two genetic variants...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41957021
DOI: 10.1038/s41467-026-71750-z
PMCID: PMC13243584

Genes

GTPBP3
MTO1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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