Single Antisense Oligonucleotides Correct Diverse Splicing Mutations in Hotspot Exons

Medicine, Basic Medical Sciences, Oncology, Life Sciences, Cell Biology, Biochemistry, Bioengineering, Genetics,
antisense oligonucleotide   splicing mutation   hotspot exon   RNA splicing   actionable genes   gene mutation   therapeutic strategy  

Broad-Spectrum Correction of Splicing Mutations in Rare Disease Hotspot Exons by Single Antisense Oligonucleotide: Review of a Recent 2025 PNAS Study I. Academic Background: The Challenge of Disease-Associated Splicing Mutations and Dilemmas in Antisense Therapy RNA splicing is a crucial step in the regulation of gene expression in eukaryotes. The ...

Disruption of Nuclear Speckle Integrity Dysregulates RNA Splicing in C9orf72-FTD/ALS

Medicine, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
nuclear speckles   RNA splicing   C9orf72   FTD   ALS  

Disruption of Nucleolar Integrity and Dysregulation of RNA Splicing in C9orf72-FTD/ALS Background and Research Motivation The hexanucleotide repeat expansion (GGGGCC)n in the C9orf72 gene is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Studies have shown that these repeat sequences not only...