ArticleScience translational medicine2022
MECP2-related pathways are dysregulated in a cortical organoid model of myotonic dystrophy.
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In one paragraph
Article in Science translational medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
2.2field-weighted citation impact, top 12% of its field
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Who cites it
16 citing papers in PubMed, 25 citations in OpenAlex.
- Pathogenic myeloid phenotypes drive disease pathology in a novel human neurohistiocytosis model.Blood · 2026Article
- Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.The Journal of clinical investigation · 2026Article
- Brain Organoids: Emerging Platforms for Modern Neuroscience.Brain sciences · 2026Review
- Review
- Understanding Glioblastoma Dynamics Using 3D Organoids and Engineered Extracellular Matrix.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectives.Nature reviews. Neurology · 2025Review
- Understanding proneural-mesenchymal transition using patient-derived glioma stem-like cell (GSC) organoids and engineered extracellular matrix.bioRxiv : the preprint server for biology · 2025Article
- Autism-related traits in myotonic dystrophy type 1 model mice are due to MBNL sequestration and RNA mis-splicing of autism-risk genes.Nature neuroscience · 2025Article
- Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Article
- Mitochondrial dysfunction and increased reactive oxygen species production in MECP2 mutant astrocytes and their impact on neurons.Scientific reports · 2024Article
- Genetics of human brain development.Nature reviews. Genetics · 2024Review
- MeCP2 dysfunction prevents proper BMP signaling and neural progenitor expansion in brain organoid.Annals of clinical and translational neurology · 2023Article
- Programmable macromolecule-based RNA-targeting therapies to treat human neurological disorders.RNA (New York, N.Y.) · 2023Article
- Pluripotent Stem Cells in Disease Modeling and Drug Discovery for Myotonic Dystrophy Type 1.Cells · 2023Review
- Human cerebral organoids - a new tool for clinical neurology research.Nature reviews. Neurology · 2022Review
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Kathryn H MorelliDepartment of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0002-3123-5369
Wenhao JinDepartment of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0002-7885-3527
Shashank ShatheDepartment of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0003-3013-4459
Assael A MadrigalDepartment of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0002-3311-5256
Krysten L JonesDepartment of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0001-9194-6245
Joshua L SchwartzDepartment of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0002-4263-2829
Tristan BridgesDepartment of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0002-4252-7965
Jasmine R MuellerDepartment of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0001-6236-8001
Archana ShankarDepartment of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0003-3499-4309
Isaac A ChaimDepartment of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0003-1787-046X
John W DayStanford University School of Medicine, Palo Alto, CA 94375, USA.ORCID 0000-0002-0086-9529
Gene W YeoDepartment of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0002-0799-6037
University of California San Diego · USPalo Alto University · US
Funding
UCSD/SDSU IRACDAK12GM068524 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI TREJO, JOANN · 2003 to 2025
$24.4MSingle-cell approaches to deconvolution of disease-associated signalsU19MH107367 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MUOTRI, ALYSSON R. · 2015 to 2019
$15.0MFunctional RNA elements in the human genomeR01HG004659 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Kevin Daniel Corbett, Eugene Wei-Ming Yeo · 2008 to 2026
$12.4MSingle-Cell Transcriptomic and Epigenetics CoreP01AI132122 · NIAID · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CHANG, JOHN T · 2018 to 2022
$9.8MA Comprehensive Functional Map of Human Protein-RNA InteractionsU41HG009889 · NHGRI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI GRAVELEY, BRENTON R. · 2018 to 2021
$9.4MTherapeutic strategies for microsatellite expansion diseases using RNA-targeting CRISPR/CasR01NS103172 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MAURICE SCOTT SWANSON, Eugene Wei-Ming Yeo · 2017 to 2026
$5.6MA comprehensive binding and functional map of human RNA-binding proteinsU24HG009889 · NHGRI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI GRAVELEY, BRENTON R., YEO, EUGENE WEI-MING · 2022 to 2025
$5.5MUsing single-cell RNA-seq to interrogate host immunity to pathogensR01AI123202 · NIAID · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CHANG, JOHN T, YEO, EUGENE WEI-MING · 2016 to 2020
$3.1MApplication of RNA-targeting Cas9 to Fuchs' dystrophyR01EY029166 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI AFSHARI, NATALIE ADEL, YEO, EUGENE WEI-MING · 2018 to 2021
$1.4MNovaSeq5000 High Throughput SequencerS10OD025052 · OD · LA JOLLA INSTITUTE FOR IMMUNOLOGY · PI SEUMOIS, GREGORY · 2018 to 2018
$832kIllumina NovaSeq 6000 Sequencing SystemS10OD026929 · OD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI JEPSEN, KRISTEN LYNN · 2019 to 2019
$600kDevelopment of RNA-Directed Therapeutics for Myotonic Dystrophy Type 1 NeuropathologyF32NS112654 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MORELLI, KATHRYN H · 2019 to 2021
$161kNEI NIH HHS R01 EY029166NHGRI NIH HHS R01 HG004659NHGRI NIH HHS U24 HG009889NHGRI NIH HHS U41 HG009889NIAID NIH HHS P01 AI132122NIAID NIH HHS R01 AI123202NIGMS NIH HHS K12 GM068524NIH HHS S10 OD025052NIH HHS S10 OD026929NIMH NIH HHS U19 MH107367NINDS NIH HHS F32 NS112654NINDS NIH HHS R01 NS103172
Abstract
Myotonic dystrophy type 1 (DM1) is a multisystem, autosomal-dominant inherited disorder caused by CTG microsatellite repeat expansions (MREs) in the 3' untranslated region of the dystrophia myotonica-protein kinase (
Indexed as
Methyl-CpG-Binding Protein 2Myotonic DystrophyAdultCELF ProteinsHumansNerve Tissue ProteinsOrganoidsRNA-Binding ProteinsRNA SplicingTrinucleotide Repeat ExpansionCELF2 protein, humanCELF ProteinsMECP2 protein, humanMethyl-CpG-Binding Protein 2Nerve Tissue ProteinsRNA-Binding Proteins
Identifiers
What OpenQuestion holds
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Read underepoch 390
Registered trials
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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.