Alternative Splicing: From Biological Functions to Human Disease to Therapeutic Targeting
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 31 January 2027 | Viewed by 28
Editor
Interests: alternative splicing; familial dysautonomia; genetics; neurodegenerative diseases; RNA splicing; small molecules; therapeutics; transcriptomics
Special Issue Information
Dear Colleagues,
Alternative splicing (AS) of pre-mRNA is a fundamental, post-transcriptional regulatory mechanism via which a single gene produces multiple distinct protein isoforms, enhancing transcriptome and proteome diversity. Occurring in over 95% of the human genes, AS is crucial for tissue development, differentiation, and physiological homeostasis. However, the deregulation of this process is now recognized as a hallmark of various human pathologies, including cancer, neurological disorders, and rare diseases, where aberrant splicing produces dysfunctional proteins or drives disease progression.
This Special Issue, entitled “Alternative Splicing: From Biological Functions To Human Disease To Therapeutic Targeting”, will gather original research and review articles highlighting the complexity of AS regulation, the role of mis-splicing in disease, and the development of innovative therapeutic strategies (e.g., antisense oligonucleotides and small molecule splicing modulators). We welcome contributions that provide a deeper understanding of the following:
- The molecular mechanisms and regulatory factors (RBPs, RNA structures) governing physiological AS;
- The contribution of aberrant splicing to human disease etiology (cancer, neurodegeneration, metabolic disorders);
- Novel technologies for the detection and quantification of splice variants;
- The development and application of splicing-targeted therapies.
Dr. Elisabetta Morini
Guest Editor
Manuscript Submission Information
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Keywords
- alternative splicing
- pre-mRNA processing
- splicing factors
- human diseases
- therapeutic targeting
- antisense oligonucleotides: small molecule splicing modulators
- RNA binding proteins
- isoform regulation
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