ArticleEMBO reports2018
Mutant MRPS5 affects mitoribosomal accuracy and confers stress-related behavioral alterations.
Article in EMBO reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 38 citations in OpenAlex.
- Unraveling mitochondrial crosstalk: a new frontier in heart failure pathogenesis.Frontiers in cardiovascular medicine · 2025Review
- Identification of hub genes in congenital hypothyroidism and construction of the associated immune regulatory network.Frontiers in immunology · 2025Article
- Advances in the study of the relationship betweenFrontiers in cell and developmental biology · 2025Review
- Identification and characterization of signature genes related to fetoplacental vascular endothelial cell programming in gestational diabetes mellitus using bioinformatics analysis.Frontiers in genetics · 2025Article
- Human iPSCs from Aged Donors Retain Their Mitochondrial Aging Signature.International journal of molecular sciences · 2024Article
- Haplotype variability in mitochondrial rRNA predisposes to metabolic syndrome.Communications biology · 2024Article
- Illuminating mitochondrial translation through mouse models.Human molecular genetics · 2024Review
- Reduced Mitochondrial Protein Translation Promotes Cardiomyocyte Proliferation and Heart Regeneration.Circulation · 2023Article
- A defect in mitochondrial protein translation influences mitonuclear communication in the heart.Nature communications · 2023Article
- IntelliCage: the development and perspectives of a mouse- and user-friendly automated behavioral test system.Frontiers in behavioral neuroscience · 2023Review
- Refinement of IntelliCage protocols for complex cognitive tasks through replacement of drinking restrictions by incentive-disincentive paradigms.Frontiers in behavioral neuroscience · 2023Article
- Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness.Frontiers in physiology · 2023Article
- Our current understanding of the toxicity of altered mito-ribosomal fidelity during mitochondrial protein synthesis: What can it tell us about human disease?Frontiers in physiology · 2023Review
- Organization and expression of the mammalian mitochondrial genome.Nature reviews. Genetics · 2022Review
- Review
- Mitochondrial rRNA Methylation by Mettl15 Contributes to the Exercise and Learning Capability in Mice.International journal of molecular sciences · 2022Article
- Phenotype of Mrps5-Associated Phylogenetic Polymorphisms Is Intimately Linked to Mitoribosomal Misreading.International journal of molecular sciences · 2022Article
- Mitochondrial Proteostasis Requires Genes Encoded in a Neurodevelopmental Syndrome Locus.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- Mitochondrial mistranslation modulated by metabolic stress causes cardiovascular disease and reduced lifespan.Aging cell · 2021Article
- Mitochondrial Mistranslation in Brain Provokes a Metabolic Response Which Mitigates the Age-Associated Decline in Mitochondrial Gene Expression.International journal of molecular sciences · 2021Article
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Authors and funding
20 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 1555 A to G substitution in mitochondrial 12S A-site rRNA is associated with maternally transmitted deafness of variable penetrance in the absence of otherwise overt disease. Here, we recapitulate the suggested A1555G-mediated pathomechanism in an experimental model of mitoribosomal mistranslation by directed mutagenesis of mitoribosomal protein MRPS5. We first establish that the ratio of cysteine/methionine incorporation and read-through of mtDNA-encoded MT-CO1 protein constitute reliable measures of mitoribosomal misreading. Next, we demonstrate that human HEK293 cells expressing mutant V336Y MRPS5 show increased mitoribosomal mistranslation. As for immortalized lymphocytes of individuals with the pathogenic A1555G mutation, we find little changes in the transcriptome of mutant V336Y MRPS5 HEK cells, except for a coordinated upregulation of transcripts for cytoplasmic ribosomal proteins. Homozygous knock-in mutant
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