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Article

Mitochondrial tRNA processing defects reprogram mitochondrial and cellular homeostasis.

The Journal of biological chemistry - 1 Jul 2025

Zhu Gao, He Yunfan, Li Xincheng, Xiao Yun, Zhan Huisen, Duan Maoli, Guan Min-Xin

Abstract excerpt

Mitochondrial tRNA processing defects have been associated with some clinical presentations including deafness. Especially, a deafness-linked m.7516delA mutation impaired the 5' end processing of RNA precursors and mitochondrial translation. In this study, we investigated the mechanism by m.7516delA mutation-induced deficiencies mitigate organellar and cellular integrity. The m.7516delA mutation downregulated the...

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Identifiers

PMID: 40473214
DOI: 10.1016/j.jbc.2025.110334
PMCID: PMC12269583

Genes

MFN2
ATF4
ATF5
BNIP3
MUL1
PINK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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