ReviewRNA biology
Repair of pre-mRNA splicing: prospects for a therapy for spinal muscular atrophy.
Review in RNA biology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- U7 snRNA: A tool for gene therapy.The journal of gene medicine · 2021Review
- Food-Derived Compounds Apigenin and Luteolin Modulate mRNA Splicing of Introns with Weak Splice Sites.iScience · 2019Article
- Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.International journal of molecular sciences · 2019Review
- Application of urine cells in drug intervention for spinal muscular atrophy.Experimental and therapeutic medicine · 2017Article
- Somatic Therapy of a Mouse SMA Model with a U7 snRNA Gene Correcting SMN2 Splicing.Molecular therapy : the journal of the American Society of Gene Therapy · 2016Article
- Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides.Human molecular genetics · 2015Article
- Antisense oligonucleotide therapy for the treatment of C9ORF72 ALS/FTD diseases.Molecular neurobiology · 2014Review
- An engineered U1 small nuclear RNA rescues splicing defective coagulation F7 gene expression in mice.Journal of thrombosis and haemostasis : JTH · 2014Article
- Alternative splicing at the intersection of biological timing, development, and stress responses.The Plant cell · 2013Review
- Antisense-mediated isoform switching of steroid receptor coactivator-1 in the central nucleus of the amygdala of the mouse brain.BMC neuroscience · 2013Article
- Identification of novel compounds that increase SMN protein levels using an improved SMN2 reporter cell assay.Journal of biomolecular screening · 2012Article
- Therapy development for spinal muscular atrophy in SMN independent targets.Neural plasticity · 2012Review
- Dynamic usage of alternative splicing exons during mouse retina development.Nucleic acids research · 2011Article
- Antisense-mediated RNA targeting: versatile and expedient genetic manipulation in the brain.Frontiers in molecular neuroscience · 2011Article
- Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model.RNA biologyArticle
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent analyses of complete genomes have revealed that alternative splicing became more prevalent and important during eukaryotic evolution. Alternative splicing augments the protein repertoire--particularly that of the human genome--and plays an important role in the development and function of differentiated cell types. However, splicing is also extremely vulnerable, and defects in the proper recognition of splicing signals can give rise to a variety of diseases. In this review, we discuss splicing correction therapies, by using the inherited disease Spinal Muscular Atrophy (SMA) as an example. This lethal early childhood disorder is caused by deletions or other severe mutations of SMN1, a gene coding for the essential survival of motoneurons protein. A second gene copy present in humans and few non-human primates, SMN2, can only partly compensate for the defect because of a single nucleotide change in exon 7 that causes this exon to be skipped in the majority of mRNAs. Thus SMN2 is a prime therapeutic target for SMA. In recent years, several strategies based on small molecule drugs, antisense oligonucleotides or in vivo expressed RNAs have been developed that allow a correction of SMN2 splicing. For some of these, a therapeutic benefit has been demonstrated in mouse models for SMA. This means that clinical trials of such splicing therapies for SMA may become possible in the near future.
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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.