ArticleNature communications2016
The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 19 citations in OpenAlex.
- Identification of Robust and Key Differentially Expressed Genes during C2C12 Cell Myogenesis Based on Multiomics Data.International journal of molecular sciences · 2022Article
- RNA Targeting in Inherited Neuromuscular Disorders: Novel Therapeutic Strategies to Counteract Mis-Splicing.Cells · 2021Review
- Trans-generational epigenetic regulation associated with the amelioration of Duchenne Muscular Dystrophy.EMBO molecular medicine · 2020Article
- Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy.Journal of neuromuscular diseases · 2020Article
- Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models.Molecular therapy. Nucleic acids · 2019Article
- Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse.Molecular therapy. Nucleic acids · 2018Article
- A CLK3-HMGA2 Alternative Splicing Axis Impacts Human Hematopoietic Stem Cell Molecular Identity throughout Development.Cell stem cell · 2018Article
- Diversification of the muscle proteome through alternative splicing.Skeletal muscle · 2018Review
- Low-level dystrophin expression attenuating the dystrophinopathy phenotype.Neuromuscular disorders : NMD · 2018Article
- Analysis of RNA-Seq datasets reveals enrichment of tissue-specific splice variants for nuclear envelope proteins.Nucleus (Austin, Tex.) · 2018Article
- Article
- Normal and altered pre-mRNA processing in the DMD gene.Human genetics · 2017Review
- Advances in gene therapy for muscular dystrophies.F1000Research · 2016Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced. We identified a DMD case (GSΔ44) where the correlation between genotype and phenotype is not respected, even if carrying a typical Duchenne mutation (exon 44 deletion) a Becker-like phenotype was observed. Here we report that in this patient, partial restoration of an in-frame transcript occurs by natural skipping of exon 45 and that this is due to the lack of Celf2a, a splicing factor that interacts with exon 45 in the dystrophin pre-mRNA. Several experiments are presented that demonstrate the central role of Celf2a in controlling exon 45 splicing; our data point to this factor as a potential target for the improvement of those DMD therapeutic treatments, which requires exon 45 skipping.
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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.