ArticleGenes & development2019
Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy.
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Article in Genes & development, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20citing papers in PubMed
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Who cites it
20 citing papers in PubMed.
- Tcf4 CTG Repeat Expansion Induces RNA Toxicity and MBNL-Associated Splicing Dysregulation in a Mouse Model of Fuchs Endothelial Corneal Dystrophy.Investigative ophthalmology & visual science · 2026Article
- CRISPR/dCas9-mediated tuning of DMPK transcription reveals a quantitative relationship between toxic repeat RNA expression and MBNL1 activity in myotonic dystrophy.Human molecular genetics · 2026Article
- Changes in RNA splicing as a surrogate endpoint for myotonic dystrophy Type 1 (DM1) clinical trials.Journal of neuromuscular diseases · 2026Review
- Modified Polycyclic Compounds Rescue Mis-splicing in Myotonic Dystrophy Type 1 Disease Models.ACS chemical biology · 2026Article
- Differential pathology and susceptibility to MBNL loss across muscles in myotonic dystrophy mouse models.JCI insight · 2025Article
- Repeat length as a key determinant for disease severity and antisense oligonucleotide activity in myotonic dystrophy type 1.Molecular therapy. Methods & clinical development · 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
- Comprehensive analysis of splicing variants in corneal endothelial cells of patients with Fuchs endothelial corneal dystrophy.Scientific reports · 2025Article
- RNA gain-of-function mechanisms in short tandem repeat diseases.RNA (New York, N.Y.) · 2025Review
- Expanding the CRISPR/Cas toolkit: applications in proteomics and theranostics.Frontiers in bioengineering and biotechnology · 2025Review
- Article
- A cyclic pyrrole-imidazole polyamide reduces pathogenic RNA in CAG/CTG triplet repeat neurological disease models.The Journal of clinical investigation · 2023Article
- Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.Brain : a journal of neurology · 2023Article
- Metal-ion transporter SLC39A8 is required for brain manganese uptake and accumulation.The Journal of biological chemistry · 2023Article
- SpecificMolecular therapy. Nucleic acids · 2023Article
- Molecular Therapies for Myotonic Dystrophy Type 1: From Small Drugs to Gene Editing.International journal of molecular sciences · 2022Review
- Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing.Biology open · 2022Article
- A spatially resolved brain region- and cell type-specific isoform atlas of the postnatal mouse brain.Nature communications · 2021Article
- Brain Pathogenesis and Potential Therapeutic Strategies in Myotonic Dystrophy Type 1.Frontiers in aging neuroscience · 2021Review
- GNeuron · 2020Article
Corrections and comments
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Authors and funding
12 authors.
Curtis A Nutter *Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, Gainesville, Florida 32610, USA.
Jodi L Bubenik *Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, Gainesville, Florida 32610, USA.
Ruan Oliveira *Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, Gainesville, Florida 32610, USA.
Franjo IvankovicDepartment of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, Gainesville, Florida 32610, USA.
Łukasz J SznajderDepartment of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, Gainesville, Florida 32610, USA.
Benjamin M KiddDepartment of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, Gainesville, Florida 32610, USA.
Belinda S PintoDepartment of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, Gainesville, Florida 32610, USA.
Brittney A OteroDepartment of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, Gainesville, Florida 32610, USA.
Helmut A CarterDepartment of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, Gainesville, Florida 32610, USA.
Eric A VitriolDepartment of Anatomy and Cell Biology, University of Florida, Gainesville, Florida 32610, USA.
Eric T WangDepartment of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, Gainesville, Florida 32610, USA.
Maurice S SwansonDepartment of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, Gainesville, Florida 32610, USA.
Funding
Temporal/spatial RNA Expression Effects in DM1 and DM2P01NS058901 · NINDS · UNIVERSITY OF MINNESOTA · PI RANUM, LAURA P.W · 2008 to 2017
$12.3MSenator Paul D. Wellstone Muscular Dystrophy Specialized Research CenterP50NS048843 · NINDS · UNIVERSITY OF ROCHESTER · PI THORNTON, CHARLES A · 2018 to 2022
$7.1MTherapeutic 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
$5.6MMolecular effects of metformin, PKR and TBI on C9orf72 ALS/FTDR01NS098819 · NINDS · UNIVERSITY OF FLORIDA · PI Laura P.W Ranum, Tao Zu · 2016 to 2026
$5.2MMolecular Genetic Characterization of SCA8R37NS040389 · NINDS · UNIVERSITY OF FLORIDA · PI RANUM, LAURA P.W · 2015 to 2021
$4.5MMolecular effects of metformin, PKR and TBI on C9orf72 ALS/FTDRF1NS098819 · NINDS · UNIVERSITY OF FLORIDA · PI RANUM, LAURA P.W, ZU, TAO · 2022 to 2022
$2.2MNINDS NIH HHS P01 NS058901NINDS NIH HHS P50 NS048843NINDS NIH HHS R01 NS098819NINDS NIH HHS R01 NS103172NINDS NIH HHS R37 NS040389NINDS NIH HHS RF1 NS098819
Abstract
Short tandem repeats (STRs) are prone to expansion mutations that cause multiple hereditary neurological and neuromuscular diseases. To study pathomechanisms using mouse models that recapitulate the tissue specificity and developmental timing of an STR expansion gene, we used rolling circle amplification and CRISPR/Cas9-mediated genome editing to generate
Indexed as
3' Untranslated RegionsAlternative SplicingAnimalsChoroid PlexusDisease Models, AnimalDNA-Binding ProteinsGene Expression Regulation, DevelopmentalGene Knock-In TechniquesMiceMicrosatellite RepeatsMuscle Fibers, SkeletalMuscle, SkeletalMutationMyotonic DystrophyMyotonin-Protein KinaseRNA-Binding Proteins3' Untranslated RegionsDNA-Binding ProteinsMbnl1 protein, mouseMyotonin-Protein KinaseRNA-Binding ProteinsMBNLmyotonic dystrophyneuromuscular diseaseRNA splicingshort tandem repeat
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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.