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 ...

Antisense Oligonucleotide–Mediated MSH3 Suppression Reduces Somatic CAG Repeat Expansion in Huntington’s Disease iPSC–Derived Striatal Neurons

Medicine, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
Huntington's disease   CAG repeat expansion   antisense oligonucleotide   iPSC-derived neurons   MSH3 protein  

Therapeutic Potential of ASO-Mediated MSH3 Suppression in Huntington’s Disease Academic Background Huntington’s disease (HD) is a neurodegenerative disorder caused by abnormal expansion of the CAG repeat sequence in the huntingtin gene (HTT). This expanded CAG repeat continues to expand somatically over time, driving the onset and progression of th...

Phase 1/2 Trial of Brogidirsen: Dual-Targeting Antisense Oligonucleotides for Exon 44 Skipping in Duchenne Muscular Dystrophy

Medicine, Medical Laboratory Science, Neurology, Life Sciences, Biochemistry, Bioengineering, Immunology, Genetics,
Duchenne muscular dystrophy   exon skipping   antisense oligonucleotide   dual-targeting   Brogidirsen   biomarkers   muscle function stabilization  

New Advances in Dual-Targeting Antisense Oligonucleotide Therapy for Duchenne Muscular Dystrophy: Phase 1⁄2 Clinical Trial of Brogidirsen Background Duchenne Muscular Dystrophy (DMD) is a fatal genetic disorder primarily affecting skeletal and cardiac muscles, leading to early loss of mobility and, eventually, organ failure. Currently, there is no ...

GYS1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Cell Biology, Biochemistry, Immunology,
GYS1   antisense oligonucleotide   epilepsy   Lafora disease   glycogen synthesis   neuroinflammation   neurodegeneration  

GYS1 Antisense Therapy Inhibits Pathogenic Aggregates and Epileptiform Discharges in a Mouse Model of Lafora Disease Background and Objectives Lafora disease (LD) is a devastating autosomal recessive genetic disorder characterized by epilepsy and rapidly progressive dementia in adolescence. The disease primarily involves mutations in the EPM2A or E...