ArticleScience (New York, N.Y.)2021
The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy.
Open access · greenAbstract read
In one paragraph
Article in Science (New York, N.Y.), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers.
0numbers the graph read from it
0cells of the map it votes in
93citing papers in PubMed
7.7field-weighted citation impact, top 2% of its field
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Who cites it
93 citing papers in PubMed, 121 citations in OpenAlex.
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- Review
- Therapeutic rescue of pathogenic asparaginyl-tRNA synthetase alleles.Molecular therapy. Nucleic acids · 2026Article
- Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.Annals of neurology · 2026Article
- A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.Human molecular genetics · 2026Article
- The neuropathy-causingbioRxiv : the preprint server for biology · 2026Article
- Human aminoacyl-tRNA synthetases as integrators of translation and cell signalling networks.Nature reviews. Molecular cell biology · 2026Review
- Multiple mechanisms lead to loss-of-function effects of pathogenic SARS2 variants.Disease models & mechanisms · 2026Article
- An inhibitor of GCN2 and the integrated stress response directly targets ZAK protein kinase to limit cytotoxicity.The Journal of biological chemistry · 2026Article
- RNA Polymerase III subunit Polr3a is required for craniofacial cartilage and bone development in zebrafish.PLoS genetics · 2026Article
- Junctions in Jeopardy: the neuromuscular junction is a selective pathological target in Charcot-Marie-Tooth disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Tuning tRNA synthetase inhibition reveals parabolic induction of stress granules limited in size and RNA content.RNA (New York, N.Y.) · 2026Article
- Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies.Journal of inherited metabolic disease · 2026Review
- A class of deep intronicmedRxiv : the preprint server for health sciences · 2026Article
- Investigating the role of serum NfL, FGF21, NCAM1 and GDF15 as disease biomarkers for Charcot-Marie-Tooth type 2A.Scientific reports · 2026Article
- The regulation, function and disease relevance of cytoplasmic tRNAs.Nature reviews. Molecular cell biology · 2026Review
- tRNA synthetase activity is required for stress granule and P-body assembly.Genes & development · 2026Article
- Expanding theNeurology. Genetics · 2026Article
- A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation inbioRxiv : the preprint server for biology · 2026Article
- Replating Induces mTOR-Dependent Rescue of Protein Synthesis in Charcot-Marie-Tooth Diseased Neurons.eNeuro · 2026Article
33 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors at 8 institutions in 5 countries.
E L SpauldingThe Jackson Laboratory, Bar Harbor, ME 04609, USA.ORCID 0000-0001-9680-6348
T J HinesThe Jackson Laboratory, Bar Harbor, ME 04609, USA.ORCID 0000-0002-0594-7354
P BaisThe Jackson Laboratory, Bar Harbor, ME 04609, USA.ORCID 0000-0002-3872-1650
A L D TadenevThe Jackson Laboratory, Bar Harbor, ME 04609, USA.ORCID 0000-0003-0801-8267
R SchneiderThe Jackson Laboratory, Bar Harbor, ME 04609, USA.ORCID 0000-0003-4657-4379
D JewettThe Jackson Laboratory, Bar Harbor, ME 04609, USA.ORCID 0000-0003-4074-2730
B PattavinaThe Jackson Laboratory, Bar Harbor, ME 04609, USA.ORCID 0000-0002-9154-8519
S L PrattThe Jackson Laboratory, Bar Harbor, ME 04609, USA.ORCID 0000-0002-2555-5120
K H MorelliThe Jackson Laboratory, Bar Harbor, ME 04609, USA.
M G StumThe Jackson Laboratory, Bar Harbor, ME 04609, USA.
D P HillThe Jackson Laboratory, Bar Harbor, ME 04609, USA.
C GobetSchool of Life Sciences, Ecole Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland.
M PipisMRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0003-0511-6515
M M ReillyMRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
M J JenningsDepartment of Clinical Neuroscience, University of Cambridge, Cambridge, UK.ORCID 0000-0002-2794-7910
R HorvathDepartment of Clinical Neuroscience, University of Cambridge, Cambridge, UK.ORCID 0000-0002-9841-170X
Y BaiDepartment of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
M E ShyDepartment of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
B Alvarez-CastelaoMax Planck Institute for Brain Research, Frankfurt, Germany.ORCID 0000-0001-7505-1855
E M SchumanMax Planck Institute for Brain Research, Frankfurt, Germany.ORCID 0000-0002-7053-1005
L P BogdanikThe Jackson Laboratory, Bar Harbor, ME 04609, USA.ORCID 0000-0001-7015-6631
E StorkebaumDepartment of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands.ORCID 0000-0002-9519-5642
R W BurgessThe Jackson Laboratory, Bar Harbor, ME 04609, USA.ORCID 0000-0002-9229-3407
Jackson Laboratory · USMax Planck Institute for Brain Research · DENational Hospital for Neurology and Neurosurgery · GBTufts University · USUniversity of Cambridge · GBUniversity of Iowa · USÉcole Polytechnique Fédérale de Lausanne · CHRadboud University Nijmegen · NL
Funding
trainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6MThe Jackson Laboratory Center for Precision Genetics: From New Models to Novel TherapeuticsU54OD020351 · OD · JACKSON LABORATORY · PI LUTZ, CATHLEEN M · 2015 to 2019
$10.2MGenetics of the Neuromuscular Junction: Mechanisms and Disease ModelsR01NS054154 · NINDS · JACKSON LABORATORY · PI BURGESS, ROBERT W. · 2006 to 2019
$6.0MThe Genetics of the Neuromuscular Junction: Mechanisms and Disease ModelsR37NS054154 · NINDS · JACKSON LABORATORY · PI Robert W. Burgess · 2020 to 2026
$5.9MExploring the Functions of tRNA Synthetases in the Nucleus and their Relationship to CMTR01NS113583 · NINDS · SCRIPPS RESEARCH INSTITUTE, THE · PI BURGESS, ROBERT W., YANG, XIANG-LEI · 2020 to 2024
$2.9MTranscriptional and Translational Profiling of Motor Neurons in Two Mouse Models of Charcot-Marie-Tooth Disease Type 2DF31NS100328 · NINDS · JACKSON LABORATORY · PI SPAULDING, EMILY LOUISA · 2017 to 2019
$87kMedical Research Council MR/K000608/1Medical Research Council MR/N025431/1Medical Research Council MR/S005021/1Medical Research Council MR/V009346/1NIH HHS U54 OD020351NINDS NIH HHS F31 NS100328NINDS NIH HHS R01 NS054154NINDS NIH HHS R01 NS113583NINDS NIH HHS R37 NS054154NINDS NIH HHS U54 NS065712Wellcome Trust
Abstract
Dominant mutations in ubiquitously expressed transfer RNA (tRNA) synthetase genes cause axonal peripheral neuropathy, accounting for at least six forms of Charcot-Marie-Tooth (CMT) disease. Genetic evidence in mouse and
Indexed as
Stress, PhysiologicalActivating Transcription Factor 4AnimalsCharcot-Marie-Tooth DiseaseDisease Models, AnimalFemaleGene DeletionGenes, DominantGlycine-tRNA LigaseMaleMiceMice, Mutant StrainsMotor NeuronsProtein BiosynthesisProtein Kinase InhibitorsProtein Serine-Threonine KinasesActivating Transcription Factor 4Atf4 protein, mouseEif2ak4 protein, mouseGlycine-tRNA LigaseProtein Kinase InhibitorsProtein Serine-Threonine KinasesTyrosine-tRNA Ligase
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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.