ArticleProceedings of the National Academy of Sciences of the United States of America2020
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.
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Article in Proceedings of the National Academy of Sciences of the United States of America, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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36citing papers in PubMed
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36 citing papers in PubMed, 66 citations in OpenAlex.
- The nBAF complex subunit CREST/SS18L1 regulates hippocampal memory processes via tyrosine 397 and histone acetyltransferase CBP.Cell reports · 2026Article
- Canonical BAF chromatin remodeling complex specifies stem cell fate via cell-type-specific co-factor recruitment.Nature communications · 2026Article
- Potential role of pyridostigmine in the management of pediatric chronic intestinal pseudo-obstruction in a girl with ACTL6B mutation: a case report and a review of literature.Frontiers in pediatrics · 2026Article
- Chromatin remodeling factor BAF155 coordinates oligodendroglial-neuronal communications linked to regional myelination and autism-like behavioral deficits in mice.Nature communications · 2025Article
- A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders.Cell stem cell · 2025Article
- CRISPR-engineered deletion ofbioRxiv : the preprint server for biology · 2025Article
- Precise modulation of BRG1 levels reveals features of mSWI/SNF dosage sensitivity.Nature genetics · 2025Article
- Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Cerebral organoid research for pediatric patients with neurological disorders.Clinical and experimental pediatrics · 2025Article
- SWI/SNF Complex Connects Signaling and Epigenetic State in Cells of Nervous System.Molecular neurobiology · 2025Review
- Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies.Biomolecules · 2025Review
- Activity-assembled nBAF complex mediates rapid immediate early gene transcription by regulating RNA polymerase II productive elongation.Cell reports · 2024Article
- Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain.American journal of human genetics · 2024Article
- Context-specific functions of chromatin remodellers in development and disease.Nature reviews. Genetics · 2024Review
- Article
- Using Human-Induced Pluripotent Stem Cell Derived Neurons on Microelectrode Arrays to Model Neurological Disease: A Review.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Review
- Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.Nature genetics · 2023Article
- Human pluripotent stem cell (hPSC) and organoid models of autism: opportunities and limitations.Translational psychiatry · 2023Review
- Critical periods and Autism Spectrum Disorders, a role for sleep.Neurobiology of sleep and circadian rhythms · 2023Article
- Modulation of chromatin architecture influences the neuronal nucleus through activity-regulated gene expression.Biochemical Society transactions · 2023Review
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Authors and funding
29 authors at 6 institutions in 3 countries.
Wendy WenderskiDepartment of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Lu WangDepartment of Neuroscience, University of California San Diego, La Jolla, CA 92037.
Andrey KrokhotinDepartment of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Jessica J WalshNancy Pritztker Laboratory, Department of Psychiatry and Behavioral Sciences, Stanford Medical School, Palo Alto, CA 94305.
Hongjie LiHoward Hughes Medical Institute, Stanford University, Palo Alto, CA 94305.
Hirotaka ShojiDivision of Systems Medical Science, Institute for Comprehensive Medical Science, Fujita Health University, 470-1192 Toyoake, Aichi, Japan.ORCID 0000-0003-4843-6949
Shereen GhoshDepartment of Neuroscience, University of California San Diego, La Jolla, CA 92037.
Renee D GeorgeDepartment of Neuroscience, University of California San Diego, La Jolla, CA 92037.
Erik L MillerDepartment of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Laura EliasDepartment of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Mark A GillespieInstitute for Systems Biology, Seattle, WA 98109.
Esther Y SonDepartment of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Brett T StaahlDepartment of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Seung Tae BaekDepartment of Neuroscience, University of California San Diego, La Jolla, CA 92037.
Valentina StanleyDepartment of Neuroscience, University of California San Diego, La Jolla, CA 92037.
Cynthia MoncadaDepartment of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Zohar ShiponyDepartment of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Sara B LinkerLaboratory of Genetics, The Salk Institute for Biological Studies, La Jolla, CA 92037.
Maria C N MarchettoLaboratory of Genetics, The Salk Institute for Biological Studies, La Jolla, CA 92037.
Fred H GageLaboratory of Genetics, The Salk Institute for Biological Studies, La Jolla, CA 92037.ORCID 0000-0002-0938-4106
Dillon ChenDepartment of Neuroscience, University of California San Diego, La Jolla, CA 92037.
Tipu SultanDepartment of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, 54000 Lahore, Pakistan.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, 12311 Cairo, Egypt.
Jeffrey A RanishInstitute for Systems Biology, Seattle, WA 98109.
Tsuyoshi MiyakawaDivision of Systems Medical Science, Institute for Comprehensive Medical Science, Fujita Health University, 470-1192 Toyoake, Aichi, Japan.ORCID 0000-0003-0137-8200
Liqun LuoHoward Hughes Medical Institute, Stanford University, Palo Alto, CA 94305.ORCID 0000-0001-5467-9264
Robert C MalenkaNancy Pritztker Laboratory, Department of Psychiatry and Behavioral Sciences, Stanford Medical School, Palo Alto, CA 94305.
Gerald R CrabtreeDepartment of Pathology, Stanford Medical School, Palo Alto, CA 94305; crabtree@stanford.edu jogleeson@ucsd.edu.
Joseph G GleesonDepartment of Neuroscience, University of California San Diego, La Jolla, CA 92037; crabtree@stanford.edu jogleeson@ucsd.edu.ORCID 0000-0002-0889-9220
Howard Hughes Medical Institute · USChildren’s Institute · USSalk Institute for Biological Studies · USFujita Health University · JPInstitute for Systems Biology · USNational Research Centre · EG
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MYale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MTraining CoreP50DA042012 · NIDA · STANFORD UNIVERSITY · PI Karl A. Deisseroth, Lisa Giocomo · 2017 to 2026
$27.1MGENETICS TRAINING PROGRAM FOR PHD CANDIDATEST32GM007790 · NIGMS · STANFORD UNIVERSITY · PI BRUNET, ANNE, KINGSLEY, DAVID M · 1985 to 2020
$12.8MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MTraining Program in Basic Clinical GeneticsT32GM008666 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI HAMILTON, BRUCE A · 1998 to 2021
$8.6MMolecular Characterization of Joubert SyndromeR01NS048453 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2004 to 2020
$6.0MATP-Dependent Chromatin Remodeling in Human MalignancyR01CA163915 · NCI · STANFORD UNIVERSITY · PI Gerald R. Crabtree · 2012 to 2026
$5.4MSignaling by Calcineurin and NFAT in Axonal OutgrowthR01NS046789 · NINDS · STANFORD UNIVERSITY · PI CRABTREE, GERALD R. · 2003 to 2012
$3.4MATP-Dependent Chromatin Regulation in Neurodevelopment and Human DiseaseR37NS046789 · NINDS · STANFORD UNIVERSITY · PI CRABTREE, GERALD R. · 2013 to 2019
$2.7MUC San Diego Genetics Training ProgramT32GM145427 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BRUCE A HAMILTON · 2022 to 2026
$2.6MSystems level investigation of di-synaptic circuit involved in panic disorderF32MH103949 · NIMH · STANFORD UNIVERSITY · PI WALSH, JESSICA JILLIAN · 2014 to 2016
$126kHoward Hughes Medical InstituteNCATS NIH HHS UL1 TR001863NCI NIH HHS R01 CA163915NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG006504NIDA NIH HHS P50 DA042012NIGMS NIH HHS T32 GM007790NIGMS NIH HHS T32 GM008666NIGMS NIH HHS T32 GM145427NIMH NIH HHS F31 MH116588NIMH NIH HHS F32 MH103949NINDS NIH HHS F99 NS118735NINDS NIH HHS R01 NS046789NINDS NIH HHS R01 NS048453NINDS NIH HHS R37 NS046789
Abstract
Synaptic activity in neurons leads to the rapid activation of genes involved in mammalian behavior. ATP-dependent chromatin remodelers such as the BAF complex contribute to these responses and are generally thought to activate transcription. However, the mechanisms keeping such "early activation" genes silent have been a mystery. In the course of investigating Mendelian recessive autism, we identified six families with segregating loss-of-function mutations in the neuronal BAF (nBAF) subunit
Indexed as
ActinsAdenosine TriphosphateAnimalsAutism Spectrum DisorderBehavior, AnimalChromatinChromatin Assembly and DisassemblyChromosomal Proteins, Non-HistoneChromosome PairingCorpus CallosumDendritesDisease Models, AnimalDNA-Binding ProteinsGene Expression RegulationHippocampusHumansActinsActl6b protein, mouseAdenosine TriphosphateChromatinChromosomal Proteins, Non-HistoneDNA-Binding ProteinsTranscription Factorsactivity dependentautismBAFmouse modelrecessive
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