ArticleScientific reports2015
Neurodegenerative disease-associated mutants of a human mitochondrial aminoacyl-tRNA synthetase present individual molecular signatures.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 29 citations in OpenAlex.
- Strategies for detecting aminoacylation and aminoacyl-tRNA editingIsrael journal of chemistry · 2024Article
- Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.Scientific reports · 2023Article
- Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.Research square · 2023Article
- Metabonomics Study in Mice With Learning and Memory Impairment on the Intervention of Essential Oil Extracted FromFrontiers in pharmacology · 2022Article
- Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A NovelMovement disorders clinical practice · 2021Review
- Disease-associated mutations in a bifunctional aminoacyl-tRNA synthetase gene elicit the integrated stress response.The Journal of biological chemistry · 2021Article
- PON-Sol2: Prediction of Effects of Variants on Protein Solubility.International journal of molecular sciences · 2021Article
- CCA-addition in the cold: Structural characterization of the psychrophilic CCA-adding enzyme from the permafrost bacteriumComputational and structural biotechnology journal · 2021Article
- Breaking a single hydrogen bond in the mitochondrial tRNAThe FEBS journal · 2020Article
- Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption.Experimental neurology · 2020Article
- The Leukodystrophies HBSL and LBSL-Correlates and Distinctions.Frontiers in cellular neuroscience · 2020Review
- Article
- When a common biological role does not imply common disease outcomes: Disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetases.The Journal of biological chemistry · 2019Review
- Integrated Metabolomics-DNA Methylation Analysis Reveals Significant Long-Term Tissue-Dependent Directional Alterations in Aminoacyl-tRNA Biosynthesis in the Left Ventricle of the Heart and Hippocampus Following Proton Irradiation.Frontiers in molecular biosciences · 2019Article
- Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.The Journal of biological chemistry · 2018Article
- Human aminoacyl-tRNA synthetases in diseases of the nervous system.RNA biology · 2018Review
- Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Methods (San Diego, Calif.) · 2017Review
- Characterization of aminoacyl-tRNA synthetase stability and substrate interaction by differential scanning fluorimetry.Methods (San Diego, Calif.) · 2017Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in human mitochondrial aminoacyl-tRNA synthetases are associated with a variety of neurodegenerative disorders. The effects of these mutations on the structure and function of the enzymes remain to be established. Here, we investigate six mutants of the aspartyl-tRNA synthetase correlated with leukoencephalopathies. Our integrated strategy, combining an ensemble of biochemical and biophysical approaches, reveals that mutants are diversely affected with respect to their solubility in cellular extracts and stability in solution, but not in architecture. Mutations with mild effects on solubility occur in patients as allelic combinations whereas those with strong effects on solubility or on aminoacylation are necessarily associated with a partially functional allele. The fact that all mutations show individual molecular and cellular signatures and affect amino acids only conserved in mammals, points towards an alternative function besides aminoacylation.
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