ArticleNucleic acids research2016
The crystal structure of human GlnRS provides basis for the development of neurological disorders.
Article in Nucleic acids research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 19 citations in OpenAlex.
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- Variant-specific interaction of kinectin 1 with the multi-tRNA synthetase complex regulates ER sheet organization.iScience · 2026Article
- Aminoacyl-tRNA synthetase defects in neurological diseases.IUBMB life · 2025Review
- Structural basis of MALAT1 RNA maturation and mascRNA biogenesis.Nature structural & molecular biology · 2024Article
- An optimized protocol forSTAR protocols · 2022Article
- Peculiarities of aminoacyl-tRNA synthetases from trypanosomatids.The Journal of biological chemistry · 2021Article
- 3-Dimensional architecture of the human multi-tRNA synthetase complex.Nucleic acids research · 2020Article
- Glutaminyl-tRNA Synthetase from Pseudomonas aeruginosa: Characterization, structure, and development as a screening platform.Protein science : a publication of the Protein Society · 2020Article
- Influence of Disease-Causing Mutations on Protein Structural Networks.Frontiers in molecular biosciences · 2020Article
- Defining and expanding the phenotype ofNeurology. Genetics · 2019Article
- Human aminoacyl-tRNA synthetases in diseases of the nervous system.RNA biology · 2018Review
- Transcriptome profiling of aging Drosophila photoreceptors reveals gene expression trends that correlate with visual senescence.BMC genomics · 2017Article
- Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase.Scientific reports · 2016Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
Cytosolic glutaminyl-tRNA synthetase (GlnRS) is the singular enzyme responsible for translation of glutamine codons. Compound heterozygous mutations in GlnRS cause severe brain disorders by a poorly understood mechanism. Herein, we present crystal structures of the wild type and two pathological mutants of human GlnRS, which reveal, for the first time, the domain organization of the intact enzyme and the structure of the functionally important N-terminal domain (NTD). Pathological mutations mapping in the NTD alter the domain structure, and decrease catalytic activity and stability of GlnRS, whereas missense mutations in the catalytic domain induce misfolding of the enzyme. Our results suggest that the reduced catalytic efficiency and a propensity of GlnRS mutants to misfold trigger the disease development. This report broadens the spectrum of brain pathologies elicited by protein misfolding and provides a paradigm for understanding the role of mutations in aminoacyl-tRNA synthetases in neurological diseases.
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