ArticlePloS one2012
RNA splicing is responsive to MBNL1 dose.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
29 citing papers in PubMed, 37 citations in OpenAlex.
- Current biomarker development in myotonic dystrophies.Journal of neurology · 2026Review
- MBNL proteins in health, disease, and therapeutic applications.Nucleic acids research · 2026Review
- A Live-Cell NanoBRET Assay to Monitor RNA-Protein Interactions and Their Inhibition by Small Molecules.ACS central science · 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
- Article
- Promoter-targeted small RNA duplexes increase MBNL1 transcription and mitigate myotonic dystrophy-associated spliceopathy.Nucleic acids research · 2025Article
- Native functions of short tandem repeats.eLife · 2023Article
- Study of an RNA-Focused DNA-Encoded Library Informs Design of a Degrader of a r(CUG) Repeat Expansion.Journal of the American Chemical Society · 2022Article
- Targeting RNA structures with small molecules.Nature reviews. Drug discovery · 2022Review
- Selective and Reversible Ligand Assembly on the DNA and RNA Repeat Sequences in Myotonic Dystrophy.Chembiochem : a European journal of chemical biology · 2022Article
- A Novel Minor Groove Binder as a Potential Therapeutic Agent for Myotonic Dystrophy Type 1.ChemMedChem · 2021Article
- Intrinsically cell-penetrating multivalent and multitargeting ligands for myotonic dystrophy type 1.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Chronic exercise mitigates disease mechanisms and improves muscle function in myotonic dystrophy type 1 mice.The Journal of physiology · 2019Article
- Autoregulation of MBNL1 function by exon 1 exclusion from MBNL1 transcript.Nucleic acids research · 2017Article
- Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS.Frontiers in cellular neuroscience · 2017Review
- Mechanistic determinants of MBNL activity.Nucleic acids research · 2016Article
- Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.European journal of human genetics : EJHG · 2016Article
- Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy.PLoS genetics · 2016Article
- Genome Therapy of Myotonic Dystrophy Type 1 iPS Cells for Development of Autologous Stem Cell Therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2016Article
- miR-30-5p Regulates Muscle Differentiation and Alternative Splicing of Muscle-Related Genes by Targeting MBNL.International journal of molecular sciences · 2016Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Myotonic dystrophy (DM1) is a highly variable, multi-system disorder resulting from the expansion of an untranslated CTG tract in DMPK. In DM1 expanded CUG repeat RNAs form hairpin secondary structures that bind and aberrantly sequester the RNA splice regulator, MBNL1. RNA splice defects resulting as a consequence of MBNL1 depletion have been shown to play a key role in the development of DM1 pathology. In patient populations, both the number and severity of DM1 symptoms increase broadly as a function of CTG tract length. However significant variability in the DM1 phenotype is observed in patients encoding similar CTG repeat numbers. Here we demonstrate that a gradual decrease in MBNL1 levels results both in the expansion of the repertoire of splice defects and an increase in the severity of the splice alterations. Thus, MBNL1 loss does not have an all or none outcome but rather shows a graded effect on the number and severity of the ensuing splice defects. Our results suggest that once a critical threshold is reached, relatively small dose variations of free MBNL1 levels, which may reflect modest changes in the size of the CUG tract or the extent of hairpin secondary structure formation, can significantly alter the number and severity of splice abnormalities and thus contribute to the phenotype variability observed in DM1 patients.
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Registered trials
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.