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Journal article
To splice or not to splice: pseudoexons in neurological disease and opportunities for intervention
Current opinion in genetics & development, Vol.92, 102343
2025
PMID: 40158386
Abstract
Accurate exon selection and processing of pre-messenger RNA are crucial for normal gene expression. Mutations that alter splicing disrupt pre-mRNA processing and can have diverse effects on transcript structure, making the consequences of many such mutations difficult to predict. While next-generation sequencing technologies have transformed genetic diagnosis for many patients, deep intronic variants generally evade detection and characterisation. Of all the known types of splicing mutations, the most elusive to predict are those that activate pseudoexons. Because transcripts that contain pseudoexons are otherwise generally intact, exclusion (or ‘skipping’) of the pseudoexon during processing of the pre-mRNA is likely to generate a normal, functional mRNA. Characterisation of pseudoexon mutations will open opportunities for the development of antisense oligonucleotide strategies to overcome these disease-causing mutations.
Details
- Title
- To splice or not to splice: pseudoexons in neurological disease and opportunities for intervention
- Authors/Creators
- Sue Fletcher - Murdoch University, Health Futures InstituteNiall P Keegan - Personalised Medicine Centre, Health Futures Institute, Murdoch University, 90 South St, Murdoch, WA 6150, AustraliaRita Mejzini - Murdoch University, Centre for Molecular Medicine and Innovative TherapeuticsIanthe L Pitout - Murdoch University, Centre for Molecular Medicine and Innovative Therapeutics
- Publication Details
- Current opinion in genetics & development, Vol.92, 102343
- Publisher
- Elsevier Ltd.
- Number of pages
- 9
- Grant note
- Racing for MNDi Foundation (Perth, Western Australia)Cure Care Support (Perth, Western Australia)Innovation Fellowship: IF2024\5 Innovation Seed Fund grant by the Department of Health (Western Australia)Neuromuscular Western Australia (Research and Equipment Grant)
The authors receive philanthropic infrastructure support from the Racing for MNDi Foundation (Perth, Western Australia) and Cure Care Support (Perth, Western Australia) ; ILP is supported by an Innovation Fellowship (Grant ID IF2024\5) and Innovation Seed Fund grant (Grant Reference InnovSeedFund2022) provided by the Department of Health (Western Australia) ; RM is funded by Neuromuscular Western Australia (Research and Equipment Grant) and the Daniel McLoone Major Research Initiative (Motor Neuron Disease Australia) . However, the authors did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors to support preparation of this manuscript.
- Identifiers
- 991005759433107891
- Copyright
- © 2025 The Author(s).
- Murdoch Affiliation
- Personalised Medicine Centre
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.54 Molecular & Cell Biology - Genetics
- 1.54.469 Alternative Splicing
- Web Of Science research areas
- Cell Biology
- Genetics & Heredity
- ESI research areas
- Molecular Biology & Genetics