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Article

AIF3 splicing variant elicits mitochondrial malfunction via the concurrent dysregulation of electron transport chain and glutathione-redox homeostasis.

Nature communications - 20 Feb 2025

Zhou Mi, Liu Shuiqiao, Wang Yanan, Zhang Bo, Zhu Ming, Wang Jennifer E, Rajaram Veena, Fang Yisheng, Luo Weibo, Wang Yingfei

Abstract excerpt

Genetic mutations in apoptosis-inducing factor (AIF) have a strong association with mitochondrial disorders; however, little is known about the aberrant splicing variants in affected patients and how these variants contribute to mitochondrial dysfunction and brain development defects. We identified pathologic AIF3/AIF3-like splicing variants in postmortem brain tissues of pediatric individuals with mitochondrial...

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Identifiers

PMID: 39979311
DOI: 10.1038/s41467-025-57081-5
PMCID: PMC11842818

Genes

AIFM1

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

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