ArticleNeuron2023
Excitatory neuron-specific suppression of the integrated stress response contributes to autism-related phenotypes in fragile X syndrome.
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Article in Neuron, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 20 citations in OpenAlex.
- ATF4 Modulates Group 1 mGluR-Dependent molecular signaling, hippocampal plasticity and behavior.Molecular psychiatry · 2026Article
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- Unraveling mGluR5 dysfunction in autism spectrum disorder: a multi-level analysis of genetic, molecular, and neurobiological mechanisms.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Article
- Exploring the Relationship Between Fragile X Syndrome and Autism: A Bibliometric Analysis of Global Research Trends.Cureus · 2025Review
- 4E-BP1-dependent translation in microglia controls mechanical hypersensitivity in male and female mice.The Journal of clinical investigation · 2025Article
- Review
- Postnatal downregulation of Fmr1 in microglia promotes microglial reactivity and causes behavioural alterations in female mice.Molecular autism · 2025Article
- Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report.Case reports in genetics · 2025Article
- Predicting cellular adaptation proteins dependent on eIF2α regulation under stress conditions: Physiological and pathophysiological implications in neuronal function.Computational and structural biotechnology journal · 2025Article
- Establishing a social behavior paradigm for female mice.Frontiers in neuroscience · 2025Article
- The integrated stress response in brain diseases: A double-edged sword for proteostasis and synapses.Current opinion in neurobiology · 2024Review
- Translational modulator ISRIB alleviates synaptic and behavioral phenotypes in Fragile X syndrome.iScience · 2024Article
- The integrated stress response pathway and neuromodulator signaling in the brain: lessons learned from dystonia.The Journal of clinical investigation · 2024Review
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Authors and funding
31 authors at 12 institutions in 5 countries.
Mehdi HooshmandiDepartment of Anesthesia and Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montréal, QC, Canada.
Vijendra SharmaDepartment of Biochemistry, McGill University, Montréal, QC, Canada.
Carolina Thörn PerezDepartment of Anesthesia and Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montréal, QC, Canada.
Rapita SoodDepartment of Biochemistry, McGill University, Montréal, QC, Canada.
Konstanze KrimbacherDepartment of Pharmacology, Medical University Innsbruck, 6020 Innsbruck, Austria.
Calvin WongDepartment of Anesthesia and Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montréal, QC, Canada.
Kevin C ListerDepartment of Anesthesia and Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montréal, QC, Canada.
Alba Ureña GuzmánDepartment of Anesthesia and Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montréal, QC, Canada.
Trevor D BartleyDepartment of Pathology and Laboratory Medicine, UC Davis School of Medicine, Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children of Northern California, MIND Institute, UC Davis Medical Center, Sacramento, CA, USA.
Cecilia RochaThe Neuro's Early Drug Discovery Unit (EDDU), Department of Neurology and Neurosurgery, Montreal Neurological Institute-Hospital, McGill University, Montréal, QC, Canada.
Gilles MaussionThe Neuro's Early Drug Discovery Unit (EDDU), Department of Neurology and Neurosurgery, Montreal Neurological Institute-Hospital, McGill University, Montréal, QC, Canada.
Emma NadlerDepartment of Anesthesia and Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montréal, QC, Canada.
Patricia Margarita RoqueDepartment of Anesthesia and Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montréal, QC, Canada.
Ilse GantoisDepartment of Biochemistry, McGill University, Montréal, QC, Canada.
Jelena PopicDepartment of Biochemistry, McGill University, Montréal, QC, Canada.
Maxime LévesqueMontreal Neurological Institute-Hospital, Departments of Neurology & Neurosurgery and of Physiology, McGill University, Montréal, QC, Canada.
Randal J KaufmanDegenerative Diseases Program, Center for Genetic Disorders and Aging Research, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
Massimo AvoliMontreal Neurological Institute-Hospital, Departments of Neurology & Neurosurgery and of Physiology, McGill University, Montréal, QC, Canada.
Elisenda SanzDepartment of Cell Biology, Physiology and Immunology, and Neuroscience Institute, Universitat Autònoma de Barcelona, Bellaterra, Spain.
Karim NaderDepartment of Psychology, Faculty of Science, McGill University, Montréal, QC, Canada.
Randi Jenssen HagermanMIND Institute and Department of Pediatrics, University of California at Davis Medical Center, Sacramento, CA, USA.
Thomas M DurcanThe Neuro's Early Drug Discovery Unit (EDDU), Department of Neurology and Neurosurgery, Montreal Neurological Institute-Hospital, McGill University, Montréal, QC, Canada.
Mauro Costa-MattioliDepartment of Neuroscience, Baylor College of Medicine, Houston, TX, 77098, USA.
Masha Prager-KhoutorskyDepartment of Physiology, McGill University, Montréal, QC, Canada.
Jean-Claude LacailleDepartment of Neurosciences, Center for Interdisciplinary Research on Brain and Learning, and Research Group on Neural Signaling and Circuitry, Université de Montréal, Montréal, QC, Canada.
Veronica Martinez-CerdenoDepartment of Pathology and Laboratory Medicine, UC Davis School of Medicine, Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children of Northern California, MIND Institute, UC Davis Medical Center, Sacramento, CA, USA.
Jay R GibsonUniversity of Texas Southwestern Medical Center at Dallas, Department of Neuroscience, Dallas, TX 75390-9111, USA.
Kimberly M HuberUniversity of Texas Southwestern Medical Center at Dallas, Department of Neuroscience, Dallas, TX 75390-9111, USA.
Nahum SonenbergDepartment of Biochemistry, McGill University, Montréal, QC, Canada. Electronic address: nahum.sonenberg@mcgill.ca.
Christos G GkogkasBiomedical Research Institute, Foundation for Research and Technology-Hellas, University Campus, 45110 Ioannina, Greece. Electronic address: cgkogkas@bri.forth.gr.
Arkady KhoutorskyDepartment of Anesthesia and Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montréal, QC, Canada; Alan Edwards Centre for Research on Pain, McGill University, Montréal, QC, Canada. Electronic address: arkady.khoutorsky@mcgill.ca.
McGill University · CAMontreal Neurological Institute and Hospital · CAShriners Hospitals for Children - Erie · USThe University of Texas Southwestern Medical Center · USBaylor College of Medicine · USCentre for Research on Brain Language and Music · CAFoundation for Research and Technology Hellas · GRInnsbruck Medical University · ATMcGill University Health Centre · CASanford Burnham Prebys Medical Discovery Institute · USUniversitat Autònoma de Barcelona · ESUniversity of California Davis Medical Center · US
Funding
WORKSHOP AND TRAINING ACTIVITIESP41RR018522 · NCRR · BATTELLE PACIFIC NORTHWEST LABORATORIES · PI BELOV, MIKHAIL · 2003 to 2011
$25.1MNeurophysiological and acute pharmacological studies in FXS patientsU54HD082008 · NICHD · UT SOUTHWESTERN MEDICAL CENTER · PI HUBER, KIMBERLY M. · 2014 to 2019
$9.8MTranslational medicine and mechanistic studies of brain neurophysiology in Fragile X SyndromeU54HD104461 · NICHD · CINCINNATI CHILDRENS HOSP MED CTR · PI HUBER, KIMBERLY M. · 2020 to 2024
$8.1MMechanism of ER Protein Misfolding-Induced Mitochondrial DysfunctionR01DK113171 · NIDDK · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI KAUFMAN, RANDAL J. · 2017 to 2020
$2.5MA Role of Astrocyte and Microglia Interplay in Alzheimer's DiseaseK99AG066960 · NIA · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI JIANG, LU-LIN · 2020 to 2022
$391kNCRR NIH HHS P41 RR018522NIA NIH HHS K99 AG066960NICHD NIH HHS U54 HD082008NICHD NIH HHS U54 HD104461NIDDK NIH HHS R01 DK113171
Abstract
Dysregulation of protein synthesis is one of the key mechanisms underlying autism spectrum disorder (ASD). However, the role of a major pathway controlling protein synthesis, the integrated stress response (ISR), in ASD remains poorly understood. Here, we demonstrate that the main arm of the ISR, eIF2α phosphorylation (p-eIF2α), is suppressed in excitatory, but not inhibitory, neurons in a mouse model of fragile X syndrome (FXS; Fmr1
Indexed as
Autism Spectrum DisorderAutistic DisorderFragile X SyndromeAnimalsDisease Models, AnimalFragile X Messenger Ribonucleoprotein 1MiceMice, KnockoutNeuronsPhenotypeFmr1 protein, mouseFragile X Messenger Ribonucleoprotein 1autismfragile X syndromeintegrated stress responsemRNA translation
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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.