ArticleNature communications2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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Who cites it
20 citing papers in PubMed, 28 citations in OpenAlex.
- ABHD11-Mediated mtDNA Transcription Restored Mitochondrial Function to Attenuate Cardiomyocyte Ferroptosis After Myocardial Infarction.Circulation · 2026Article
- Systematic Engineering of Loss-of-Function Alleles in the Zebrafish Mitochondrial Proteome.bioRxiv : the preprint server for biology · 2026Article
- Pathogenic POLRMT variants in mice impair mtDNA transcription and affect perinatal survival.JCI insight · 2026Article
- Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial Dysfunction.European journal of neurology · 2026Article
- Morpholino Knockdown in Zebrafish: A Tool to Investigate the Functional Impact of Variants of Unknown Significance in Mitochondrial Diseases.Neuromolecular medicine · 2025Review
- Structural basis for promoter recognition and transcription factor binding and release in human mitochondria.Molecular cell · 2025Article
- Multifunctional robotic micromanipulation system for automated cardiovascular disease therapy using zebrafish.npj biomedical innovations · 2025Article
- Mitochondrial Quality Control in Health and Disease.MedComm · 2025Review
- Review of 40 genes causing congenital myasthenic syndromes.Journal of human genetics · 2025Review
- Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.Genome medicine · 2025Article
- Review: Utility of mass spectrometry in rare disease research and diagnosis.NPJ genomic medicine · 2025Review
- TEFM facilitates uterine corpus endometrial carcinoma progression by activating ROS-NFκB pathway.Journal of translational medicine · 2024Article
- A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders.Orphanet journal of rare diseases · 2024Article
- Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.Annals of clinical and translational neurology · 2024Article
- Mitochondrial protein synthesis quality control.Human molecular genetics · 2024Review
- Illuminating mitochondrial translation through mouse models.Human molecular genetics · 2024Review
- Cell-specific modulation of mitochondrial respiration and metabolism by the pro-apoptotic Bcl-2 family members Bax and Bak.Apoptosis : an international journal on programmed cell death · 2024Article
- Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.Brain : a journal of neurology · 2024Article
- Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease.International journal of molecular sciences · 2023Review
- Report on the 6th Ottawa International Conference on Neuromuscular Disease & Biology - September 7-9, 2023, Ottawa, Canada.Journal of neuromuscular diseasesArticle
Corrections and comments
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Authors and funding
41 authors at 12 institutions in 9 countries.
Funding
Abstract
Mutations in the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA biology. The TEFM gene encodes the mitochondrial transcription elongation factor responsible for enhancing the processivity of mitochondrial RNA polymerase, POLRMT. We report for the first time that TEFM variants are associated with mitochondrial respiratory chain deficiency and a wide range of clinical presentations including mitochondrial myopathy with a treatable neuromuscular transmission defect. Mechanistically, we show muscle and primary fibroblasts from the affected individuals have reduced levels of promoter distal mitochondrial RNA transcripts. Finally, tefm knockdown in zebrafish embryos resulted in neuromuscular junction abnormalities and abnormal mitochondrial function, strengthening the genotype-phenotype correlation. Our study highlights that TEFM regulates mitochondrial transcription elongation and its defect results in variable, tissue-specific neurological and neuromuscular symptoms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.