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Article

Deafness-associated mitochondrial 12S rRNA mutation reshapes mitochondrial and cellular homeostasis.

The Journal of biological chemistry - 1 Feb 2025

He Yunfan, Tang Zhining, Zhu Gao, Cai Luhang, Chen Chao, Guan Min-Xin

Abstract excerpt

Human mitochondrial 12S ribosomal RNA (rRNA) 1555A>G mutation has been associated with aminoglycoside-induced and nonsyndromic deafness in many families worldwide. Our previous investigation revealed that the m.1555A>G mutation impaired mitochondrial translation and oxidative phosphorylation (OXPHOS). However, the mechanisms by which mitochondrial dysfunctions induced by m.1555A>G mutation regulate intracellular...

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Identifiers

PMID: 39716492
DOI: 10.1016/j.jbc.2024.108124
PMCID: PMC11791119

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