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Articles de revues sur le sujet « AARS2 »

Auteur : Grafiati

Publié le 9 mars 2023

Mis à jour le 31 juillet 2025

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1

Lakshmanan, Rahul, Matthew E. Adams, David S. Lynch, et al. "Redefining the phenotype of ALSP and AARS2 mutation–related leukodystrophy." Neurology Genetics 3, no. 2 (2017): e135. http://dx.doi.org/10.1212/nxg.0000000000000135.

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Objective:To provide an overview of the phenotype of 2 clinically, radiologically, and pathologically similar leukodystrophies, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and alanyl-transfer RNA synthetase 2 mutation–related leukodystrophy (AARS2-L), and highlight key differentiating features.Methods:ALSP and AARS2-L cases were identified from the adult-onset leukodystrophy database at our institution. In addition, cases with imaging findings were identified from a literature review. The phenotypic features were determined by combining published cases with

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Axelsen, Tobias Melton, Tzvetelina Lubenova Vammen, Mads Bak, Nelsan Pourhadi, Christian Midtgaard Stenør, and Sabine Grønborg. "Case report: ‘AARS2 leukodystrophy’." Molecular Genetics and Metabolism Reports 28 (September 2021): 100782. http://dx.doi.org/10.1016/j.ymgmr.2021.100782.

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Bhardwaj, Priya, Christoffer Rasmus Vissing, Niels Kjær Stampe, et al. "Reassessment of Gene-Elusive Familial Dilated Cardiomyopathy Leading to the Discovery of a Homozygous AARS2 Variant—The Importance of Regular Reassessment of Genetic Findings." Cardiogenetics 11, no. 3 (2021): 122–28. http://dx.doi.org/10.3390/cardiogenetics11030013.

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Background: AARS2 encodes the mitochondrial protein alanyl-tRNA synthetase 2 (MT-AlaRS), an important enzyme in oxidative phosphorylation. Variants in AARS2 have previously been associated with infantile cardiomyopathy. Case summary: A 4-year-old girl died of infantile-onset dilated cardiomyopathy (DCM) in 1996. Fifteen years later, her 21-year-old brother was diagnosed with DCM and ultimately underwent heart transplantation. Initial sequencing of 15 genes discovered no pathogenic variants in the brother at the time of his diagnosis. However, 9 years later re-screening in an updated screening

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Duzkale, Neslihan, Oguz Lafci, Reyhan Araz, Haktan Bagis Erdem, Mehlika Panpalli Ates, and Halil Onder. "Report of a progressive leukoencephalopathy with ovarian failure (LKENP) case with compound heterozygous genotype and a novel variant: AARS2:c.2358_2364+7dup." Neurology Asia 29, no. 4 (2024): 1181–85. https://doi.org/10.54029/2024zvd.

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Leukoencephalopathies are a heterogeneous group of diseases in which many acquired and hereditary factors play a role in its etiopathogenesis. In recent years, Alanyl-tRNA synthetase 2 (AARS2), encoded by the nuclear genome, has been identified as the causative gene in a small number of patients. The AARS2 gene is responsible for the “progressive leukoencephalopathy with ovarian failure (LKENP)” phenotype, an extremely rare syndrome characterized by progressive leukoencephalopathy and premature ovarian failure. In this case report; we describe the delayed diagnosis of LKENP by genetic analysis

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Dallabona, C., D. Diodato, S. H. Kevelam, et al. "Novel (ovario) leukodystrophy related to AARS2 mutations." Neurology 82, no. 23 (2014): 2063–71. http://dx.doi.org/10.1212/wnl.0000000000000497.

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Parra, Sahyli Perez, Stephan H. Heckers, William R. Wilcox, Colin David Mcknight, and H. A. Jinnah. "The emerging neurological spectrum of AARS2-associated disorders." Parkinsonism & Related Disorders 93 (December 2021): 50–54. http://dx.doi.org/10.1016/j.parkreldis.2021.10.031.

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van der Knaap, Marjo S., and Truus E. M. Abbink. "Ovarioleukodystrophy: Vanishing white matter versus AARS2-related ovarioleukodystrophy." Clinical Neurology and Neurosurgery 171 (August 2018): 195. http://dx.doi.org/10.1016/j.clineuro.2018.06.024.

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Szpisjak, Laszlo, Nora Zsindely, Jozsef I. Engelhardt, Laszlo Vecsei, Gabor G. Kovacs, and Peter Klivenyi. "Novel AARS2 gene mutation producing leukodystrophy: a case report." Journal of Human Genetics 62, no. 2 (2016): 329–33. http://dx.doi.org/10.1038/jhg.2016.126.

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Kuo, Molly E., Anthony Antonellis, and Vikram G. Shakkottai. "Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy." Cerebellum 19, no. 1 (2019): 154–60. http://dx.doi.org/10.1007/s12311-019-01080-y.

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Mao, Yunzi, Jiaojiao Zhang, Qian Zhou, et al. "Hypoxia induces mitochondrial protein lactylation to limit oxidative phosphorylation." Cell Research 34, no. 1 (2024): 13–30. http://dx.doi.org/10.1038/s41422-023-00864-6.

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AbstractOxidative phosphorylation (OXPHOS) consumes oxygen to produce ATP. However, the mechanism that balances OXPHOS activity and intracellular oxygen availability remains elusive. Here, we report that mitochondrial protein lactylation is induced by intracellular hypoxia to constrain OXPHOS. We show that mitochondrial alanyl-tRNA synthetase (AARS2) is a protein lysine lactyltransferase, whose proteasomal degradation is enhanced by proline 377 hydroxylation catalyzed by the oxygen-sensing hydroxylase PHD2. Hypoxia induces AARS2 accumulation to lactylate PDHA1 lysine 336 in the pyruvate dehydr

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Taglia, I., I. Di Donato, S. Bianchi, et al. "AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases." Acta Neurologica Scandinavica 138, no. 4 (2018): 278–83. http://dx.doi.org/10.1111/ane.12954.

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Bruwer, Zandrè, Nihal Al Riyami, Tamima Al Dughaishi, et al. "Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience." Journal of Perinatal Medicine 46, no. 9 (2018): 968–74. http://dx.doi.org/10.1515/jpm-2017-0124.

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Abstract Objective: The purpose of this study was to determine the frequency of non-immune hydrops fetalis (NIHF) among all pregnancies referred for prenatal care at Sultan Qaboos University Hospital (SQUH) during the study period and to evaluate the underlying etiologies of NIH. Study design: All pregnancies referred to SQUH between February 2014 and December 2015 were identified, and all pregnancies meeting the diagnosis of NIHF were included in this study. All cases of NIHF referred to our center during this period underwent standard systematic diagnostic work-up that included biochemical a

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Saga, Yusuke, Moeka Kawashima, Shiho Sakai, et al. "Plant-Specific Domains and Fragmented Sequences Imply Non-Canonical Functions in Plant Aminoacyl-tRNA Synthetases." Genes 11, no. 9 (2020): 1056. http://dx.doi.org/10.3390/genes11091056.

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Aminoacyl-tRNA synthetases (aaRSs) play essential roles in protein translation. In addition, numerous aaRSs (mostly in vertebrates) have also been discovered to possess a range of non-canonical functions. Very few studies have been conducted to elucidate or characterize non-canonical functions of plant aaRSs. A genome-wide search for aaRS genes in Arabidopsis thaliana revealed a total of 59 aaRS genes. Among them, asparaginyl-tRNA synthetase (AsnRS) was found to possess a WHEP domain inserted into the catalytic domain in a plant-specific manner. This insertion was observed only in the cytosoli

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Peragallo, Jason H., Stephanie Keller, Marjo S. van der Knaap, Bruno P. Soares, and Suma P. Shankar. "Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene." Ophthalmic Genetics 39, no. 1 (2017): 99–102. http://dx.doi.org/10.1080/13816810.2017.1350723.

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Sharaf, Gruber, Jiroutová, and Oborník. "Characterization of Aminoacyl-tRNA Synthetases in Chromerids." Genes 10, no. 8 (2019): 582. http://dx.doi.org/10.3390/genes10080582.

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Aminoacyl-tRNA synthetases (AaRSs) are enzymes that catalyze the ligation of tRNAs to amino acids. There are AaRSs specific for each amino acid in the cell. Each cellular compartment in which translation takes place (the cytosol, mitochondria, and plastids in most cases), needs the full set of AaRSs; however, individual AaRSs can function in multiple compartments due to dual (or even multiple) targeting of nuclear-encoded proteins to various destinations in the cell. We searched the genomes of the chromerids, Chromera velia and Vitrella brassicaformis, for AaRS genes: 48 genes encoding AaRSs w

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Wang, Justin, Ingrid Vallee, Aditi Dutta, et al. "Multi-Omics Database Analysis of Aminoacyl-tRNA Synthetases in Cancer." Genes 11, no. 11 (2020): 1384. http://dx.doi.org/10.3390/genes11111384.

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Aminoacyl-tRNA synthetases (aaRSs) are key enzymes in the mRNA translation machinery, yet they possess numerous non-canonical functions developed during the evolution of complex organisms. The aaRSs and aaRS-interacting multi-functional proteins (AIMPs) are continually being implicated in tumorigenesis, but these connections are often limited in scope, focusing on specific aaRSs in distinct cancer subtypes. Here, we analyze publicly available genomic and transcriptomic data on human cytoplasmic and mitochondrial aaRSs across many cancer types. As high-throughput technologies have improved expo

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Woese, Carl R., Gary J. Olsen, Michael Ibba, and Dieter Söll. "Aminoacyl-tRNA Synthetases, the Genetic Code, and the Evolutionary Process." Microbiology and Molecular Biology Reviews 64, no. 1 (2000): 202–36. http://dx.doi.org/10.1128/mmbr.64.1.202-236.2000.

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SUMMARY The aminoacyl-tRNA synthetases (AARSs) and their relationship to the genetic code are examined from the evolutionary perspective. Despite a loose correlation between codon assignments and AARS evolutionary relationships, the code is far too highly structured to have been ordered merely through the evolutionary wanderings of these enzymes. Nevertheless, the AARSs are very informative about the evolutionary process. Examination of the phylogenetic trees for each of the AARSs reveals the following. (i) Their evolutionary relationships mostly conform to established organismal phylogeny: a

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Hamatani, Mio, Naoto Jingami, Yoshinori Tsurusaki, et al. "The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations." Journal of Human Genetics 61, no. 10 (2016): 899–902. http://dx.doi.org/10.1038/jhg.2016.64.

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Crnković, Ana, Oscar Vargas-Rodriguez, and Dieter Söll. "Plasticity and Constraints of tRNA Aminoacylation Define Directed Evolution of Aminoacyl-tRNA Synthetases." International Journal of Molecular Sciences 20, no. 9 (2019): 2294. http://dx.doi.org/10.3390/ijms20092294.

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Genetic incorporation of noncanonical amino acids (ncAAs) has become a powerful tool to enhance existing functions or introduce new ones into proteins through expanded chemistry. This technology relies on the process of nonsense suppression, which is made possible by directing aminoacyl-tRNA synthetases (aaRSs) to attach an ncAA onto a cognate suppressor tRNA. However, different mechanisms govern aaRS specificity toward its natural amino acid (AA) substrate and hinder the engineering of aaRSs for applications beyond the incorporation of a single l-α-AA. Directed evolution of aaRSs therefore fa

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Khan, Debjit, and Paul L. Fox. "Aminoacyl-tRNA synthetase interactions in SARS-CoV-2 infection." Biochemical Society Transactions 51, no. 6 (2023): 2127–41. http://dx.doi.org/10.1042/bst20230527.

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Aminoacyl-tRNA synthetases (aaRSs) are ancient enzymes that serve a foundational role in the efficient and accurate translation of genetic information from messenger RNA to proteins. These proteins play critical, non-canonical functions in a multitude of cellular processes. Multiple viruses are known to hijack the functions of aaRSs for proviral outcomes, while cells modify antiviral responses through non-canonical functions of certain synthetases. Recent findings have revealed that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the etiological agent of coronaviral disease 19 (C

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Wang, Danqing, Meng Yu, Wei Zhang, Zhaoxia Wang, and Yun Yuan. "AARS2 Compound Heterozygous Variants in a Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia." Journal of Neuropathology & Experimental Neurology 77, no. 11 (2018): 997–1000. http://dx.doi.org/10.1093/jnen/nly087.

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Fernandes, Joana, João Moura, João Tarrio, et al. "A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy — A case report." Molecular Genetics and Metabolism Reports 41 (December 2024): 101157. http://dx.doi.org/10.1016/j.ymgmr.2024.101157.

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Zhou, Yiran, Beili Chen, Lin Li, et al. "Novel alanyl-tRNA synthetase 2 (AARS2) homozygous mutation in a consanguineous Chinese family with premature ovarian insufficiency." Fertility and Sterility 112, no. 3 (2019): 569–76. http://dx.doi.org/10.1016/j.fertnstert.2019.05.005.

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Pang, Luping, Stephen D. Weeks, and Arthur Van Aerschot. "Aminoacyl-tRNA Synthetases as Valuable Targets for Antimicrobial Drug Discovery." International Journal of Molecular Sciences 22, no. 4 (2021): 1750. http://dx.doi.org/10.3390/ijms22041750.

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Aminoacyl-tRNA synthetases (aaRSs) catalyze the esterification of tRNA with a cognate amino acid and are essential enzymes in all three kingdoms of life. Due to their important role in the translation of the genetic code, aaRSs have been recognized as suitable targets for the development of small molecule anti-infectives. In this review, following a concise discussion of aaRS catalytic and proof-reading activities, the various inhibitory mechanisms of reported natural and synthetic aaRS inhibitors are discussed. Using the expanding repository of ligand-bound X-ray crystal structures, we classi

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Carter, Charles W., and Peter R. Wills. "The Roots of Genetic Coding in Aminoacyl-tRNA Synthetase Duality." Annual Review of Biochemistry 90, no. 1 (2021): 349–73. http://dx.doi.org/10.1146/annurev-biochem-071620-021218.

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Codon-dependent translation underlies genetics and phylogenetic inferences, but its origins pose two challenges. Prevailing narratives cannot account for the fact that aminoacyl-tRNA synthetases (aaRSs), which translate the genetic code, must collectively enforce the rules used to assemble themselves. Nor can they explain how specific assignments arose from rudimentary differentiation between ancestral aaRSs and corresponding transfer RNAs (tRNAs). Experimental deconstruction of the two aaRS superfamilies created new experimental tools with which to analyze the emergence of the code. Amino aci

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Sindrila, Dutta Banik, Debnath Sudarshan, and Nandi Nilashis. "A significant difference in the reaction mechanism of the first step of the aminoacylation reaction in class I and class II synthetases." Journal of Indian Chemical Society Vol. 89, Nov 2012 (2012): 1531–38. https://doi.org/10.5281/zenodo.5771621.

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Department of Chemistry, University of Kalyani, Kalyani-741 235, Nadia, West Bengal, India <em>E-mail </em>: nilashisnandi@yahoo.com Fax : 91-33-25828282 <em>Manuscript received 10 January 2012, accepted 22 February 2012</em> Aminoacylation reaction is a vital step of protein synthesis. The reaction takes place within the active site of aminoacyl tRNA synthetase (aaRS) and involves amino acid (AA) as well as adenosine triphosphate (ATP) as substrate. The twenty aaRSs are divided into two classes based on their primary structural sequence as well as three dimensional structures. Several differe

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Randall, Christopher P., Dace Rasina, Aigars Jirgensons, and Alex J. O'Neill. "Targeting Multiple Aminoacyl-tRNA Synthetases Overcomes the Resistance Liabilities Associated with Antibacterial Inhibitors Acting on a Single Such Enzyme." Antimicrobial Agents and Chemotherapy 60, no. 10 (2016): 6359–61. http://dx.doi.org/10.1128/aac.00674-16.

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ABSTRACTBacterial aminoacyl-tRNA synthetases (aaRSs) represent promising antibacterial drug targets. Unfortunately, the aaRS inhibitors that have to date reached clinical trials are subject to rapid resistance development through mutation, a phenomenon that limits their potential clinical utility. Here, we confirm the intuitively correct idea that simultaneous targeting of two different aaRS enzymes prevents the emergence of spontaneous bacterial resistance at high frequency, a finding that supports the development of multitargeted anti-aaRS therapies.

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Randall, Christopher P., Dace Rasina, Aigars Jirgensons, and Alex John O'Neill. "Targeting Multiple Aminoacyl-tRNA Synthetases Overcomes the Resistance Liabilities Associated with Antibacterial Inhibitors Acting on a Single Such Enzyme." Antimicrobial Agents and Chemotherapy 60, no. 10 (2016): 6359–61. https://doi.org/10.1128/AAC.00674-16.

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Bacterial aminoacyl-tRNA synthetases (aaRSs) represent promising antibacterial drug targets. Unfortunately, the aaRS inhibitors that have to date reached clinical trials are subject to rapid resistance development through mutation, a phenomenon that limits their potential clinical utility. Here, we confirm the intuitively correct idea that simultaneous targeting of two different aaRS enzymes prevents the emergence of spontaneous bacterial resistance at high frequency, a finding that supports the development of multitargeted anti-aaRS therapies.

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Nielsen, Søren K., Frederikke Hansen, Henrik Daa Schrøder, Flemming Wibrand, Finn Gustafsson, and Jens Mogensen. "Recessive Inheritance of a Rare Variant in the Nuclear Mitochondrial Gene for AARS2 in Late-Onset Dilated Cardiomyopathy." Circulation: Genomic and Precision Medicine 13, no. 5 (2020): 560–62. http://dx.doi.org/10.1161/circgen.120.003086.

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De Michele, Giovanna, Daniele Galatolo, Maria Lieto, et al. "New AARS2 Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy." Movement Disorders Clinical Practice 7, no. 6 (2020): 684–87. http://dx.doi.org/10.1002/mdc3.12991.

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Wolf, Yuri I., L. Aravind, Nick V. Grishin, and Eugene V. Koonin. "Evolution of Aminoacyl-tRNA Synthetases—Analysis of Unique Domain Architectures and Phylogenetic Trees Reveals a Complex History of Horizontal Gene Transfer Events." Genome Research 9, no. 8 (1999): 689–710. http://dx.doi.org/10.1101/gr.9.8.689.

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Phylogenetic analysis of aminoacyl-tRNA synthetases (aaRSs) of all 20 specificities from completely sequenced bacterial, archaeal, and eukaryotic genomes reveals a complex evolutionary picture. Detailed examination of the domain architecture of aaRSs using sequence profile searches delineated a network of partially conserved domains that is even more elaborate than previously suspected. Several unexpected evolutionary connections were identified, including the apparent origin of the β-subunit of bacterial GlyRS from the HD superfamily of hydrolases, a domain shared by bacterial AspRS and the B

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Melnikov, Sergey V., and Dieter Söll. "Aminoacyl-tRNA Synthetases and tRNAs for an Expanded Genetic Code: What Makes them Orthogonal?" International Journal of Molecular Sciences 20, no. 8 (2019): 1929. http://dx.doi.org/10.3390/ijms20081929.

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In the past two decades, tRNA molecules and their corresponding aminoacyl-tRNA synthetases (aaRS) have been extensively used in synthetic biology to genetically encode post-translationally modified and unnatural amino acids. In this review, we briefly examine one fundamental requirement for the successful application of tRNA/aaRS pairs for expanding the genetic code. This requirement is known as “orthogonality”—the ability of a tRNA and its corresponding aaRS to interact exclusively with each other and avoid cross-reactions with additional types of tRNAs and aaRSs in a given organism.

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Dong, Qing, Ling Long, Yan-yu Chang, Yan-jun Lin, Mei Liu, and Zheng-qi Lu. "An adolescence-onset male leukoencephalopathy with remarkable cerebellar atrophy and novel compound heterozygous AARS2 gene mutations: a case report." Journal of Human Genetics 63, no. 7 (2018): 841–46. http://dx.doi.org/10.1038/s10038-018-0446-7.

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Lee, Dongheon, and Jong-il Choi. "Predicting the polyspecificity of aminoacyl-tRNA synthetase for non-canonical amino acids using molecular dynamics simulation and MM/PBSA." PLOS ONE 20, no. 1 (2025): e0316907. https://doi.org/10.1371/journal.pone.0316907.

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With the advancement of genetic code expansion, the field is progressing towards incorporating multiple non-canonical amino acids (ncAAs). The specificity of aminoacyl-tRNA synthetases (aaRSs) towards ncAAs is a critical factor, as engineered aaRSs frequently show polyspecificity, complicating the precise incorporation of multiple ncAAs. To address this challenge, predicting binding affinity can be beneficial. In this study, we expressed sfGFP using an orthogonal aaRS/tRNA pair with 4-Azido-L-phenylalanine (AzF) and another four different ncAAs. The experimental results showed specificity with

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Kiraly-Borri, Catherine, Gareth Jevon, Weizhen Ji, et al. "Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum." Molecular Case Studies 5, no. 3 (2019): a003699. http://dx.doi.org/10.1101/mcs.a003699.

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Feng, Min, and Han Zhang. "Aminoacyl-tRNA Synthetase: A Non-Negligible Molecule in RNA Viral Infection." Viruses 14, no. 3 (2022): 613. http://dx.doi.org/10.3390/v14030613.

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Infectious diseases such as the ongoing coronavirus disease 2019 (COVID-19) continue to have a huge impact on global health, and the host-virus interaction remains incompletely understood. To address the global threat, in-depth investigations in pathogenesis are essential for interventions in infectious diseases and vaccine development. Interestingly, aminoacyl-transfer RNA (tRNA) synthetases (aaRSs), an ancient enzyme family that was once considered to play housekeeping roles in protein synthesis, are involved in multiple viral infectious diseases. Many aaRSs in eukaryotes present as the comp

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Chen, Meirong, Bernhard Kuhle, Jolene Diedrich, et al. "Cross-editing by a tRNA synthetase allows vertebrates to abundantly express mischargeable tRNA without causing mistranslation." Nucleic Acids Research 48, no. 12 (2020): 6445–57. http://dx.doi.org/10.1093/nar/gkaa469.

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Abstract The accuracy in pairing tRNAs with correct amino acids by aminoacyl-tRNA synthetases (aaRSs) dictates the fidelity of translation. To ensure fidelity, multiple aaRSs developed editing functions that remove a wrong amino acid from tRNA before it reaches the ribosome. However, no specific mechanism within an aaRS is known to handle the scenario where a cognate amino acid is mischarged onto a wrong tRNA, as exemplified by AlaRS mischarging alanine to G4:U69-containing tRNAThr. Here, we report that the mischargeable G4:U69-containing tRNAThr are strictly conserved in vertebrates and are u

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Baumann, Tobias, Matthias Hauf, Florian Richter, et al. "Computational Aminoacyl-tRNA Synthetase Library Design for Photocaged Tyrosine." International Journal of Molecular Sciences 20, no. 9 (2019): 2343. http://dx.doi.org/10.3390/ijms20092343.

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Engineering aminoacyl-tRNA synthetases (aaRSs) provides access to the ribosomal incorporation of noncanonical amino acids via genetic code expansion. Conventional targeted mutagenesis libraries with 5–7 positions randomized cover only marginal fractions of the vast sequence space formed by up to 30 active site residues. This frequently results in selection of weakly active enzymes. To overcome this limitation, we use computational enzyme design to generate a focused library of aaRS variants. For aaRS enzyme redesign, photocaged ortho-nitrobenzyl tyrosine (ONBY) was chosen as substrate due to c

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Lynch, David S., Charles Wade, Anderson Rodrigues Brandão de Paiva, et al. "Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era." Journal of Neurology, Neurosurgery & Psychiatry 90, no. 5 (2018): 543–54. http://dx.doi.org/10.1136/jnnp-2018-319481.

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Adult-onset leukodystrophies and genetic leukoencephalopathies comprise a diverse group of neurodegenerative disorders of white matter with a wide age of onset and phenotypic spectrum. Patients with white matter abnormalities detected on MRI often present a diagnostic challenge to both general and specialist neurologists. Patients typically present with a progressive syndrome including various combinations of cognitive impairment, movement disorders, ataxia and upper motor neuron signs. There are a number of important and treatable acquired causes for this imaging and clinical presentation. Th

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Xie, Stanley C., Riley D. Metcalfe, Elyse Dunn, et al. "Reaction hijacking of tyrosine tRNA synthetase as a new whole-of-life-cycle antimalarial strategy." Science 376, no. 6597 (2022): 1074–79. http://dx.doi.org/10.1126/science.abn0611.

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Aminoacyl transfer RNA (tRNA) synthetases (aaRSs) are attractive drug targets, and we present class I and II aaRSs as previously unrecognized targets for adenosine 5′-monophosphate–mimicking nucleoside sulfamates. The target enzyme catalyzes the formation of an inhibitory amino acid–sulfamate conjugate through a reaction-hijacking mechanism. We identified adenosine 5′-sulfamate as a broad-specificity compound that hijacks a range of aaRSs and ML901 as a specific reagent a specific reagent that hijacks a single aaRS in the malaria parasite Plasmodium falciparum , namely tyrosine RS ( Pf YRS). M

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Lynch, David S., Wei Jia Zhang, Rahul Lakshmanan, et al. "Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia." JAMA Neurology 73, no. 12 (2016): 1433. http://dx.doi.org/10.1001/jamaneurol.2016.2229.

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Zhang, Baole, Luping Pang, Manesh Nautiyal, et al. "Synthesis and Biological Evaluation of 1,3-Dideazapurine-Like 7-Amino-5-Hydroxymethyl-Benzimidazole Ribonucleoside Analogues as Aminoacyl-tRNA Synthetase Inhibitors." Molecules 25, no. 20 (2020): 4751. http://dx.doi.org/10.3390/molecules25204751.

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Aminoacyl-tRNA synthetases (aaRSs) have become viable targets for the development of antimicrobial agents due to their crucial role in protein translation. A series of six amino acids were coupled to the purine-like 7-amino-5-hydroxymethylbenzimidazole nucleoside analogue following an optimized synthetic pathway. These compounds were designed as aaRS inhibitors and can be considered as 1,3-dideazaadenine analogues carrying a 2-hydroxymethyl substituent. Despite our intentions to obtain N1-glycosylated 4-aminobenzimidazole congeners, resembling the natural purine nucleosides glycosylated at the

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Bhowal, Pratyasha, Priyanka Biswas Karmakar, Debkanya Dey, Riya Manna, Debraj Roy, and Rajat Banerjee. "Aminoacyl-tRNA Synthetases, Indispensable Players in Lung Tumorigenesis." Protein & Peptide Letters 29, no. 3 (2022): 208–17. http://dx.doi.org/10.2174/0929866529666220110143520.

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Abstract: Being an essential enzyme in protein synthesis, the aminoacyl-tRNA synthetases (aaRSs) have a conserved function throughout evolution. However, research has uncovered altered expressions as well as interactions of aaRSs, in league with aaRS-interacting multi-functional proteins (AIMPs), forming a multi-tRNA synthetase complex (MSC) and divulging into their roles outside the range of protein synthesis. In this review, we have directed our focus into the rudimentary structure of this compact association and also how these aaRSs and AIMPs are involved in the maintenance and progression

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Ferrer, Isidro. "The Primary Microglial Leukodystrophies: A Review." International Journal of Molecular Sciences 23, no. 11 (2022): 6341. http://dx.doi.org/10.3390/ijms23116341.

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Primary microglial leukodystrophy or leukoencephalopathy are disorders in which a genetic defect linked to microglia causes cerebral white matter damage. Pigmented orthochromatic leukodystrophy, adult-onset orthochromatic leukodystrophy associated with pigmented macrophages, hereditary diffuse leukoencephalopathy with (axonal) spheroids, and adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) are different terms apparently used to designate the same disease. However, ALSP linked to dominantly inherited mutations in CSF1R (colony stimulating factor receptor 1) cause

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Ferrer, Isidro. "The Primary Microglial Leukodystrophies: A Review." International Journal of Molecular Sciences 23, no. 11 (2022): 6341. http://dx.doi.org/10.3390/ijms23116341.

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Primary microglial leukodystrophy or leukoencephalopathy are disorders in which a genetic defect linked to microglia causes cerebral white matter damage. Pigmented orthochromatic leukodystrophy, adult-onset orthochromatic leukodystrophy associated with pigmented macrophages, hereditary diffuse leukoencephalopathy with (axonal) spheroids, and adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) are different terms apparently used to designate the same disease. However, ALSP linked to dominantly inherited mutations in CSF1R (colony stimulating factor receptor 1) cause

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Zheng, Wen-Qiang, Yuying Zhang, Qin Yao, et al. "Nitrosative stress inhibits aminoacylation and editing activities of mitochondrial threonyl-tRNA synthetase by S-nitrosation." Nucleic Acids Research 48, no. 12 (2020): 6799–810. http://dx.doi.org/10.1093/nar/gkaa471.

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Abstract Structure and/or function of proteins are frequently affected by oxidative/nitrosative stress via posttranslational modifications. Aminoacyl-tRNA synthetases (aaRSs) constitute a class of ubiquitously expressed enzymes that control cellular protein homeostasis. Here, we found the activity of human mitochondrial (mt) threonyl-tRNA synthetase (hmtThrRS) is resistant to oxidative stress (H2O2) but profoundly sensitive to nitrosative stress (S-nitrosoglutathione, GSNO). Further study showed four Cys residues in hmtThrRS were modified by S-nitrosation upon GSNO treatment, and one residue w

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Ruan, Liang-Liang, Xiao-Long Zhou, Min Tan, and En-Duo Wang. "Human cytoplasmic ProX edits mischarged tRNAPro with amino acid but not tRNA specificity." Biochemical Journal 450, no. 1 (2013): 243–52. http://dx.doi.org/10.1042/bj20121493.

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aaRSs (aminoacyl-tRNA synthetases) are responsible for ensuring the fidelity of the genetic code translation by accurately linking a particular amino acid to its cognate tRNA isoacceptor. To ensure accuracy of protein biosynthesis, some aaRSs have evolved an editing process to remove mischarged tRNA. The hydrolysis of the mischarged tRNA usually occurs in an editing domain, which is inserted into or appended to the main body of the aaRS. In addition, autonomous, editing domain-homologous proteins can also trans-edit mischarged tRNA in concert or in compensating for the editing function of its

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Chen, Zilu, Kun Mei, Yao Xiao, et al. "Prognostic Assessment of Oxidative Stress-Related Genes in Colorectal Cancer and New Insights into Tumor Immunity." Oxidative Medicine and Cellular Longevity 2022 (October 15, 2022): 1–19. http://dx.doi.org/10.1155/2022/2518340.

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Oxidative stress is crucial to the biology of tumors. Oxidative stress’ potential predictive significance in colorectal cancer (CRC) has not been studied; nevertheless here, we developed a forecasting model based on oxidative stress to forecast the result of CRC survival and enhance clinical judgment. The training set was chosen from the transcriptomes of 177 CRC patients in GSE17536. For validation, 65 samples of colon cancer from GSE29621 were utilized. For the purpose of choosing prognostic genes, the expression of oxidative stress-related genes (OXEGs) was found. Prognostic risk models wer

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Lee, Dongheon, Suk Min Yun, and Jong-il Choi. "Expanding the genetic code: In vivo approaches for incorporating non-proteinogenic monomers." Journal of Microbiology 63, no. 3 (2025): e2501005. https://doi.org/10.71150/jm.2501005.

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The application of genetic code expansion has enabled the incorporation of non-canonical amino acids (ncAAs) into proteins, introducing novel functional groups and significantly broadening the scope of protein engineering. Over the past decade, this approach has extended beyond ncAAs to include non-proteinogenic monomers (npMs), such as β-amino acids and hydroxy acids. In vivo incorporation of these monomers requires maintaining orthogonality between endogenous and engineered aminoacyl-tRNA synthetase (aaRS)/tRNA pairs while optimizing the use of the translational machinery. This review introd

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Tiosano, Dov, Jason A. Mears, and David A. Buchner. "Mitochondrial Dysfunction in Primary Ovarian Insufficiency." Endocrinology 160, no. 10 (2019): 2353–66. http://dx.doi.org/10.1210/en.2019-00441.

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Abstract Primary ovarian insufficiency (POI) is defined by the loss or dysfunction of ovarian follicles associated with amenorrhea before the age of 40. Symptoms include hot flashes, sleep disturbances, and depression, as well as reduced fertility and increased long-term risk of cardiovascular disease. POI occurs in ∼1% to 2% of women, although the etiology of most cases remains unexplained. Approximately 10% to 20% of POI cases are due to mutations in a single gene or a chromosomal abnormality, which has provided considerable molecular insight into the biological underpinnings of POI. Many of

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