ArticleHuman mutation2017
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
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Article in Human mutation, 2017. 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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25citing papers in PubMed
1.6field-weighted citation impact, top 17% of its field
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Who cites it
25 citing papers in PubMed, 36 citations in OpenAlex.
- Yeast models for Charcot-Marie-Tooth disease-causing aminoacyl-tRNA synthetase alleles reveal the cellular basis of disease.IUBMB life · 2025Review
- Glycyl-tRNA Synthetase as a Target for Antiviral Drug Screening Against Influenza Virus.International journal of molecular sciences · 2025Article
- Glycyl-tRNA sequestration is a unifying mechanism underlying GARS1-associated peripheral neuropathy.Nucleic acids research · 2025Article
- Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects.Journal of inherited metabolic disease · 2025Review
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.Brain : a journal of neurology · 2023Review
- Transcriptome sequencing and single-cell sequencing analysis identify GARS1 as a potential prognostic and immunotherapeutic biomarker for multiple cancers, including bladder cancer.Frontiers in immunology · 2023Article
- Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.Human mutation · 2022Article
- Conformational sampling of CMT-2D associated GlyRS mutations.Brain multiphysics · 2022Article
- Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene.Molecular genetics & genomic medicine · 2022Article
- Ecological Specialization and Evolutionary Reticulation in Extant Hyaenidae.Molecular biology and evolution · 2021Article
- Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.International journal of molecular sciences · 2021Review
- An Integrated Approach to Studying Rare Neuromuscular Diseases Using Animal and Human Cell-Based Models.Frontiers in cell and developmental biology · 2021Review
- Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.Biochemistry. Biokhimiia · 2021Review
- AAV1.NT-3 gene therapy in a CMT2D model: phenotypic improvements inBrain communications · 2021Article
- GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.American journal of medical genetics. Part A · 2020Article
- The undiagnosed diseases program: Approach to diagnosis.Translational science of rare diseases · 2020Article
- Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.The Journal of clinical investigation · 2019Article
- A recurrent GARS mutation causes distal hereditary motor neuropathy.Journal of the peripheral nervous system : JPNS · 2019Article
- Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.American journal of human genetics · 2019Article
- Aminoacyl-tRNA synthetase deficiencies in search of common themes.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Stephanie N OprescuDepartment of Human Genetics, University of Michigan, Ann Arbor, Michigan.
Xenia Chepa-LotreaNIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Ryuichi TakaseDepartment of Biochemistry and Molecular Biochemistry, Thomas Jefferson University, Philadelphia, Pennsylvania.
Gretchen GolasNIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Thomas C MarkelloNIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
David R AdamsNIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Camilo ToroNIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Andrea L GropmanDivision of Neurogenetics and Developmental Pediatrics, Children's National Medical Center, Washington, District of Columbia.
Ya-Ming HouDepartment of Biochemistry and Molecular Biochemistry, Thomas Jefferson University, Philadelphia, Pennsylvania.
May Christine V MalicdanNIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
William A GahlNIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Cynthia J TifftNIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Anthony AntonellisDepartment of Human Genetics, University of Michigan, Ann Arbor, Michigan.ORCID 0000-0002-5820-3156
National Institutes of Health · USThomas Jefferson University · USUniversity of Michigan · USChildren's National · US
Funding
NHGRI/DIR Clinical Support ServicesZIDHG200352 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI SOLOMON, BENJAMIN · 2009 to 2025
$182.8MHuman Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6MAminoacyl-tRNA synthetases and human inherited diseaseR01GM118647 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ANTONELLIS, ANTHONY · 2016 to 2019
$1.6MAdoMet-dependent tRNA methyl transferasesR01GM114343 · NIGMS · THOMAS JEFFERSON UNIVERSITY · PI HOU, YA-MING · 2015 to 2018
$1.3MProbes for a tRNA modification enzymeU01GM108972 · NIGMS · THOMAS JEFFERSON UNIVERSITY · PI HOU, YA-MING · 2015 to 2016
$603kAnalysis of tRNA Synthetase Variants in the Undiagnosed Diseases ProgramR21GM110184 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ANTONELLIS, ANTHONY · 2014 to 2015
$467kProbes for a tRNA modification enzymeR01GM108972 · NIGMS · THOMAS JEFFERSON UNIVERSITY · PI HOU, YA-MING · 2014 to 2014
$295kNIGMS NIH HHS R01 GM108972NIGMS NIH HHS R01 GM114343NIGMS NIH HHS R01 GM118647NIGMS NIH HHS R21 GM110184NIGMS NIH HHS U01 GM108972
Abstract
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes that ligate amino acids onto tRNA molecules. Genes encoding ARSs have been implicated in myriad dominant and recessive disease phenotypes. Glycyl-tRNA synthetase (GARS) is a bifunctional ARS that charges tRNA
Indexed as
Genes, RecessiveCharcot-Marie-Tooth DiseaseChildCytoplasmDevelopmental DisabilitiesExome SequencingFemaleGenetic VariationGlycine-tRNA LigaseHumansMitochondriaGlycine-tRNA Ligaseaminoacyl-tRNA synthetasedevelopmental syndromeGARSglycyl-tRNA synthetasegrowth retardation
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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.