ArticleAmerican journal of human genetics2018
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
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Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29citing papers in PubMed
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Who cites it
29 citing papers in PubMed, 49 citations in OpenAlex.
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- Isoleucyl-tRNA synthetase 1 mutation impairs pulmonary surfactant homeostasis by disrupting alveolar macrophage function.Respiratory research · 2026Article
- Protein biomarkers for bipolar II disorder are correlated with affective cognitive performance.BMC psychiatry · 2025Article
- Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype.JIMD reports · 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
- Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype.Molecular genetics & genomic medicine · 2025Article
- Article
- Pulmonary fibrosis may begin in infancy: from childhood to adult interstitial lung disease.Thorax · 2024Review
- Navigating the Neuroimmunomodulation Frontier: Pioneering Approaches and Promising Horizons-A Comprehensive Review.International journal of molecular sciences · 2024Review
- 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
- FARSB Facilitates Hepatocellular Carcinoma Progression by Activating the mTORC1 Signaling Pathway.International journal of molecular sciences · 2023Article
- High expression of VARS promotes the growth of multiple myeloma cells by causing imbalance in valine metabolism.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2023Article
- [Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2023Article
- Copy number variation in tRNA isodecoder genes impairs mammalian development and balanced translation.Nature communications · 2023Article
- The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.Scientific reports · 2022Article
- A Novel Leucyl-tRNA Synthetase Inhibitor, MRX-6038, Expresses Anti-Mycobacterium abscessus ActivityAntimicrobial agents and chemotherapy · 2022Article
- Fatal systemic disorder caused by biallelic variants in FARSA.Orphanet journal of rare diseases · 2022Article
- Systemic inflammatory syndrome in children with FARSA deficiency.Clinical genetics · 2022Article
- The pathophyiological role of aminoacyl-tRNA synthetases in digestive system diseases.Frontiers in physiology · 2022Review
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Authors and funding
33 authors at 17 institutions in 4 countries.
Zhiwen XuIAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; Pangu Biopharma, Edinburgh Tower, The Landmark, 15 Queen's Road Central, Hong Kong, China; aTyr Pharma, 3545 John Hopkins Court, Suite 250, San Diego, CA 92121, USA.
Wing-Sze LoIAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; Pangu Biopharma, Edinburgh Tower, The Landmark, 15 Queen's Road Central, Hong Kong, China.
David B BeckDepartment of Medicine, Columbia University, New York, NY 10032, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Luise A SchuchDr. von Hauner Children's Hospital, Division of Pediatric Pneumology, University Hospital Munich, German Center for Lung Research (DZL), Lindwurmstr. 4, 80337 München, Germany.
Monika OláhováWellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Robert KopajtichInstitute of Human Genetics, Technical University Munich, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
Yeeting E ChongaTyr Pharma, 3545 John Hopkins Court, Suite 250, San Diego, CA 92121, USA.
Charlotte L AlstonWellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Elias SeidlDr. von Hauner Children's Hospital, Division of Pediatric Pneumology, University Hospital Munich, German Center for Lung Research (DZL), Lindwurmstr. 4, 80337 München, Germany.
Liting ZhaiIAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China.
Ching-Fun LauIAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; Pangu Biopharma, Edinburgh Tower, The Landmark, 15 Queen's Road Central, Hong Kong, China.
Donna TimchakDepartment of Pediatrics, Columbia University, New York, NY 10032, USA; Goryeb Children's Hospital, Atlantic Health System, Morristown, NJ 07960, USA.
Charles A LeDucDepartment of Pediatrics, Columbia University, New York, NY 10032, USA.
Alain C BorczukDepartment of Pathology, Weill Cornell Medicine, New York, NY 10065, USA.
Andrew F TeichDepartment of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY 10032, USA.
Jane JuusolaGeneDx, Gaithersburg, MD 20877, USA.
Christina SofesoCenter for Human Genetics and Laboratory Diagnostics (AHC) Dr. Klein, Dr. Rost and Colleagues, Lochhamer Str. 29, 82152 Martinsried, Germany.
Christoph MüllerDepartment of Pediatrics and Adolescent Medicine, University Medical Center, Medical Faculty, University of Freiburg, 79085 Freiburg, Germany.
Germaine PierreBristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol BS2 8BJ, UK.
Tom HilliardBristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol BS2 8BJ, UK.
Peter D TurnpennyRoyal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Matias WagnerInstitute of Human Genetics, Technical University Munich, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany; Institut für Neurogenomik, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
Matthias KapplerDr. von Hauner Children's Hospital, Division of Pediatric Pneumology, University Hospital Munich, German Center for Lung Research (DZL), Lindwurmstr. 4, 80337 München, Germany.
Frank BraschKlinikum Bielefeld Mitte, Institute for Pathology, Teutoburger Straße 50, 33604 Bielefeld, Germany.
John Paul BouffardDepartment Pathology, Morristown Memorial Hospital, Morristown, NJ 07960, USA.
Leslie A NangleaTyr Pharma, 3545 John Hopkins Court, Suite 250, San Diego, CA 92121, USA.
Xiang-Lei YangIAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; The Scripps Laboratories for tRNA Synthetase Research, The Scripps Research Institute, 10650 North Torrey Pines Road, La Jolla, CA 92037, USA; Department of Molecular Medicine, The Scripps Research Insitute, La Jolla, CA 92037, USA.
Mingjie ZhangIAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China.
Robert W TaylorWellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Holger ProkischInstitute of Human Genetics, Technical University Munich, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
Matthias GrieseDr. von Hauner Children's Hospital, Division of Pediatric Pneumology, University Hospital Munich, German Center for Lung Research (DZL), Lindwurmstr. 4, 80337 München, Germany.
Wendy K ChungDepartment of Medicine, Columbia University, New York, NY 10032, USA; Department of Pediatrics, Columbia University, New York, NY 10032, USA. Electronic address: wkc15@cumc.columbia.edu.
Paul SchimmelIAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; The Scripps Laboratories for tRNA Synthetase Research, The Scripps Research Institute, 10650 North Torrey Pines Road, La Jolla, CA 92037, USA; The Scripps Laboratories for tRNA Synthetase Research, Scripps Florida, 130 Scripps Way, Jupiter, FL 33458, USA. Electronic address: schimmel@scripps.edu.
Hong Kong University of Science and Technology · HKGerman Center for Lung Research · DEHelmholtz Zentrum München · DEWellcome Centre for Mitochondrial Research · GBaTyr Pharma (United States) · USColumbia University · USScripps Research Institute · USUniversity Hospitals Bristol NHS Foundation Trust · GBColumbia University Irving Medical Center · USCornell University · USCS Diagnostics · DEGoryeb Children's Hospital · USKlinikum Bielefeld · DEMorristown Medical Center · USNational Institutes of Health · USRoyal Devon & Exeter NHS Foundation Trust · GBUniversity of Freiburg · DE
Funding
Extra-translational roles of aminoacyl tRNA synthetases in connection to diseaseR01GM088278 · NIGMS · SCRIPPS RESEARCH INSTITUTE, THE · PI YANG, XIANG-LEI · 2010 to 2019
$3.7MMedical Research Council G0800674NIGMS NIH HHS R01 GM088278Wellcome Trust
Abstract
The tRNA synthetases catalyze the first step of protein synthesis and have increasingly been studied for their nuclear and extra-cellular ex-translational activities. Human genetic conditions such as Charcot-Marie-Tooth have been attributed to dominant gain-of-function mutations in some tRNA synthetases. Unlike dominantly inherited gain-of-function mutations, recessive loss-of-function mutations can potentially elucidate ex-translational activities. We present here five individuals from four families with a multi-system disease associated with bi-allelic mutations in FARSB that encodes the beta chain of the alpha
Indexed as
AdolescentAllelesAmino Acyl-tRNA SynthetasesCharcot-Marie-Tooth DiseaseChild, PreschoolFemaleGenes, RecessiveHeterozygoteHumansInfantLung DiseasesMaleMutationProtein BiosynthesisAmino Acyl-tRNA Synthetasesbi-allelic mutationcerebral calcificationscholesterol pneumonitisexome sequencinginterstitial lung diseasemissense mutationmulti-system diseasenon-canonical functionnon-coding varianttRNA synthetase
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