ArticlePloS one2014
Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Comprehensive multi-cohort transcriptional meta-analysis of muscle diseases identifies a signature of disease severity.Scientific reports · 2022Pooled it
- Dynamic NFIX Promoter Usage Shapes Stem and Committed Myogenic States.International journal of molecular sciences · 2026Article
- Current biomarker development in myotonic dystrophies.Journal of neurology · 2026Review
- Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2024Review
- Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.Journal of cachexia, sarcopenia and muscle · 2023Article
- Formins in Human Disease.Cells · 2021Review
- Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes.JCI insight · 2019Article
- Article
- Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy.Scientific reports · 2018Article
- Myotonic Dystrophy and Developmental Regulation of RNA Processing.Comprehensive Physiology · 2018Review
- Review
- Abnormalities in Skeletal Muscle Myogenesis, Growth, and Regeneration in Myotonic Dystrophy.Frontiers in neurology · 2018Review
- High-resolution temporal and regional mapping of MAPT expression and splicing in human brain development.PloS one · 2018Article
- Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.Journal of neurology · 2017Review
- Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2017Review
- MicroRNA-222 regulates muscle alternative splicing through Rbm24 during differentiation of skeletal muscle cells.Cell death & disease · 2016Article
- Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism.Journal of neuromuscular diseases · 2015Article
Corrections and comments
- Erratum issuedManteiga, Jose M Garcia [corrected to Garcia-Manteiga, Jose M]
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myotonic dystrophy type 2 (DM2) is a genetic, autosomal dominant disease due to expansion of tetraplet (CCTG) repetitions in the first intron of the ZNF9/CNBP gene. DM2 is a multisystemic disorder affecting the skeletal muscle, the heart, the eye and the endocrine system. According to the proposed pathological mechanism, the expanded tetraplets have an RNA toxic effect, disrupting the splicing of many mRNAs. Thus, the identification of aberrantly spliced transcripts is instrumental for our understanding of the molecular mechanisms underpinning the disease. The aim of this study was the identification of new aberrant alternative splicing events in DM2 patients. By genome wide analysis of 10 DM2 patients and 10 controls (CTR), we identified 273 alternative spliced exons in 218 genes. While many aberrant splicing events were already identified in the past, most were new. A subset of these events was validated by qPCR assays in 19 DM2 and 15 CTR subjects. To gain insight into the molecular pathways involving the identified aberrantly spliced genes, we performed a bioinformatics analysis with Ingenuity system. This analysis indicated a deregulation of development, cell survival, metabolism, calcium signaling and contractility. In conclusion, our genome wide analysis provided a database of aberrant splicing events in the skeletal muscle of DM2 patients. The affected genes are involved in numerous pathways and networks important for muscle physio-pathology, suggesting that the identified variants may contribute to DM2 pathogenesis.
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