ArticleAmerican journal of human genetics2019
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
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Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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33citing papers in PubMed, 1 pooled it
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33 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.Clinical genetics · 2025Pooled it
- High-Dose L-Serine Supplementation During Febrile Decompensation inJIMD reports · 2026Article
- Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism.BMC medical genomics · 2025Article
- Transcription-coupled repair: tangled up in convoluted repair.The FEBS journal · 2025Review
- Article
- 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
- Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype.Molecular genetics & genomic medicine · 2025Article
- Aminoacyl-tRNA synthetase defects in neurological diseases.IUBMB life · 2025Review
- A kinetic model for compound heterozygous pathogenic variants in Tyrosyl-tRNA synthetase gene YARS2-Associated neonatal phenotype.The Journal of biological chemistry · 2025Article
- Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS.Nucleic acids research · 2024Article
- AARS Online: A collaborative database on the structure, function, and evolution of the aminoacyl-tRNA synthetases.IUBMB life · 2024Article
- A Cysteinyl-tRNA Synthetase Mutation Causes Novel Autosomal-Dominant Inheritance of a Parkinsonism/Spinocerebellar-Ataxia Complex.Neuroscience bulletin · 2024Article
- The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.Molecular genetics & genomic medicine · 2024Article
- A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants.HGG advances · 2024Article
- Predictive modeling provides insight into the clinical heterogeneity associated withbioRxiv : the preprint server for biology · 2024Article
- Goldilocks principle and recessive disease.European journal of human genetics : EJHG · 2024Article
- Increased cysteinyl-tRNA synthetase drives neuroinflammation in Alzheimer's disease.Translational neurodegeneration · 2024Article
- Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.EMBO molecular medicine · 2023Article
- A functional link between lariat debranching enzyme and the intron-binding complex is defective in non-photosensitive trichothiodystrophy.Molecular cell · 2023Article
- A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.Human molecular genetics · 2023Article
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Authors and funding
23 authors at 6 institutions in 2 countries.
Molly E KuoCellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Arjan F TheilDepartment of Molecular Genetics, Oncode Institute, Erasmus Medical Center, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 CN Rotterdam, the Netherlands.
Anneke KievitDepartment of Clinical Genetics, Erasmus Medical Center, University Medical Center, 3015 GD Rotterdam, the Netherlands.
May Christine MalicdanUndiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Wendy J IntroneUndiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Thomas ChristianDepartment of Biochemistry and Molecular Biochemistry, Thomas Jefferson University, Philadelphia, PA 19107, USA.
Frans W VerheijenDepartment of Clinical Genetics, Erasmus Medical Center, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Desiree E C SmithMetabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Center and Amsterdam Gastroenterology and Metabolism, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HZ Amsterdam, the Netherlands.
Marisa I MendesMetabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Center and Amsterdam Gastroenterology and Metabolism, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HZ Amsterdam, the Netherlands.
Lidia Hussaarts-OdijkDepartment of Clinical Genetics, Erasmus Medical Center, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Eric van der MeijdenDepartment of Clinical Genetics, Erasmus Medical Center, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Marjon van SlegtenhorstDepartment of Clinical Genetics, Erasmus Medical Center, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Martina WilkeDepartment of Clinical Genetics, Erasmus Medical Center, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Wim VermeulenDepartment of Molecular Genetics, Oncode Institute, Erasmus Medical Center, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 CN Rotterdam, the Netherlands.
Anja RaamsDepartment of Molecular Genetics, Oncode Institute, Erasmus Medical Center, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 CN Rotterdam, the Netherlands.
Catherine GrodenUndiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Shino ShimadaUndiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Rebecca Meyer-SchumanDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Ya Ming HouDepartment of Biochemistry and Molecular Biochemistry, Thomas Jefferson University, Philadelphia, PA 19107, USA.
William A GahlUndiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Anthony AntonellisCellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA. Electronic address: antonell@umich.edu.
Gajja S SalomonsMetabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Center and Amsterdam Gastroenterology and Metabolism, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HZ Amsterdam, the Netherlands; Genetic Metabolic Diseases, Amsterdam University Medical Center, University of Amsterdam, 1081 HZ Amsterdam, the Netherlands. Electronic address: g.salomons@vumc.nl.
Grazia M S ManciniDepartment of Clinical Genetics, Erasmus Medical Center, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Erasmus MC · NLNational Institutes of Health · USAmsterdam Neuroscience · NLOncode Institute · NLUniversity of Michigan · USThomas Jefferson University · US
Funding
Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6MMICHIGAN MEDICAL SCIENTIST TRAINING PROGRAMT32GM007863 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI COLLINS, KATHLEEN L. · 1985 to 2024
$38.3MCELLULAR AND MOLECULAR BIOLOGY AT MICHIGANT32GM007315 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI PUTHENVEEDU, MANOJKUMAR A · 1985 to 2021
$12.8MPREDOCTORAL TRAINING IN GENETICST32GM007544 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MORAN, JOHN V. · 1985 to 2022
$11.3MAminoacyl-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
$1.3MProbe discovery for tRNA methylationR01GM126210 · NIGMS · THOMAS JEFFERSON UNIVERSITY · PI HOU, YA-MING, SMITH, LAYTON HARRIS · 2018 to 2020
$1.2MProbes for a tRNA modification enzymeU01GM108972 · NIGMS · THOMAS JEFFERSON UNIVERSITY · PI HOU, YA-MING · 2015 to 2016
$603kProbes for a tRNA modification enzymeR01GM108972 · NIGMS · THOMAS JEFFERSON UNIVERSITY · PI HOU, YA-MING · 2014 to 2014
$295kClinical Pursuits by the NHGRI Office of the Clinical DirectorZIAHG200402 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2019 to 2019
$122kDefining the Role of Cysteinyl-tRNA Synthetase Variants in Neurological DiseaseF31NS113515 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI KUO, MOLLY · 2019 to 2021
$83kDefining the Molecular Pathology of Neuropathy-associated Aminoacyl-tRNA Synthetase MutationsF31NS108510 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI SCHUMAN, REBECCA MEYER · 2018 to 2020
$74kNIGMS NIH HHS R01 GM108972NIGMS NIH HHS R01 GM114343NIGMS NIH HHS R01 GM118647NIGMS NIH HHS R01 GM126210NIGMS NIH HHS T32 GM007315NIGMS NIH HHS T32 GM007544NIGMS NIH HHS T32 GM007863NIGMS NIH HHS U01 GM108972NINDS NIH HHS F31 NS108510NINDS NIH HHS F31 NS113515
Abstract
Aminoacyl-tRNA synthetases (ARSs) are essential enzymes responsible for charging tRNA molecules with cognate amino acids. Consistent with the essential function and ubiquitous expression of ARSs, mutations in 32 of the 37 ARS-encoding loci cause severe, early-onset recessive phenotypes. Previous genetic and functional data suggest a loss-of-function mechanism; however, our understanding of the allelic and locus heterogeneity of ARS-related disease is incomplete. Cysteinyl-tRNA synthetase (CARS) encodes the enzyme that charges tRNA
Indexed as
MutationAdultAmino Acid SequenceAmino Acyl-tRNA SynthetasesCharcot-Marie-Tooth DiseaseDevelopmental DisabilitiesFemaleGenes, RecessiveGenetic Predisposition to DiseaseHair DiseasesHumansMaleMicrocephalyNail DiseasesPedigreePhenotypeAmino Acyl-tRNA Synthetasescysteinyl-tRNA synthetaseaminoacyl-tRNA synthetasecysteinyl-tRNA synthetasedevelopmental delaymicrocephalyperipheral neuropathyrecessive disease
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