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Article

A mitochondrial myopathy-associated tRNASer(UCN) 7453G>A mutation alters tRNA metabolism and mitochondrial function.

Mitochondrion - 1 Mar 2021

Lin Yan, Xu Xuebi, Wang Wei, Liu Fuchen, Zhao Dandan, Li Duoling, Ji Kunqian, Li Wei, Zhao Yuying, Yan Chuanzhu

Abstract excerpt

BACKGROUND: Mitochondrial disorders are a group of heterogeneous diseases characterized by biochemical disturbances in oxidative phosphorylation (OXPHOS). Mutations in mitochondrial transfer RNA (mt-tRNA) genes are the most frequently in mitochondrial disease. However, few studies have detailed the molecular mechanisms behind these mutations. METHODS: We performed clinical evaluation, genetic analysis, muscle...

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Share to Genome, Mitochondrial
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Membrane Potential, Mitochondrial

Share to Mitochondrial Myopathies

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Share to Protein Biosynthesis

Share to Reactive Oxygen Species

Share to RNA, Transfer, Ser

Source

Identifiers

PMID: 33279600
DOI: 10.1016/j.mito.2020.11.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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