Frank Rigo

This paper develops a VHH-Fc fusion protein to deliver siRNAs and ASOs across the BBB in rodents and NHPs, showing that binding affinity, DAR, and conjugation site affect delivery efficiency.

This paper introduces NMA-modified antisense oligonucleotides that show improved potency compared to MOE-modified SSOs in modulating splicing for SMA and Dravet syndrome.

A splice-switching antisense oligonucleotide delivered via intravitreal injection mitigates early retinal dysfunction in a pig model of CLN3 Batten disease.

The paper shows that TDP-43 pathology causes a cryptic exon in G3BP1 to be included in neurons, leading to a protein that disrupts stress granule dynamics in ALS/FTD.

This study shows that reducing RAD23A in TDP-43 mice improves survival, behavior, and reduces TDP-43 pathology and transcriptomic alterations.

This study shows that antisense oligonucleotides can increase progranulin protein levels by blocking miR-29b binding in GRN mRNA, offering a potential therapy for FTD.

The paper identifies hnRNP H and F as regulators of Myc-dependent HRAS exon splicing in prostate cancer, showing their roles in splicing activation and correlation with Myc hallmarks.

This study shows that reducing Nemo-like kinase enhances lysosome biogenesis and improves TDP-43 clearance, alleviating neurodegeneration in mouse models.

This study shows that targeting G2C4 antisense repeat RNA, not G4C2 sense RNA, mitigates TDP-43 dysfunction in C9orf72 ALS/FTD patient neurons, explaining the failure of previous G4C2 ASO clinical trials.

This paper demonstrates that systemically delivered OTV, a TfR-binding molecule, effectively transports ASO across the BBB, achieving widespread and sustained knockdown of target genes in the CNS of mice and non-human primates.

This study identifies early activation of stress and apoptotic pathways in a mouse model of ALS/FTD and shows that suppressing Chop has limited effects on disease progression.

This study shows that reducing Ube3a-ATS with antisense oligonucleotides rescues EEG rhythms and sleep in Angelman syndrome mouse models, suggesting a broader therapeutic window than previously believed.

This study demonstrates that antisense oligonucleotide therapy reduces seizures and improves survival in a KCNT1 mouse model of encephalopathy.

This paper introduces a new rat model of Alexander disease that exhibits key pathological features and motor impairment, demonstrating that antisense oligonucleotide therapy can reverse GFAP pathology and white matter deficits.

This study shows that antisense oligonucleotides targeting UBE3A-ATS restore UBE3A expression by removing transcriptional interference in Angelman syndrome neurons.

The paper maps ASO distribution and activity in the CNS of rodents and NHP after central administration, showing widespread effects across cell types.

This study shows that reducing SCN2A function with an antisense oligonucleotide improves survival and behavior in a mouse model of early seizure onset DEE.

This paper shows that reducing PLP1 expression in a mouse model of PMD improves myelination, motor function, and lifespan, supporting PLP1 suppression as a therapeutic strategy.

The paper identifies POM121 as a critical nucleoporin affected by C9orf72 repeat RNA, leading to nuclear pore complex disassembly and neuronal toxicity in ALS/FTD.

This study demonstrates that GalNAc-conjugated ASOs can target cancer cells expressing ectopic ASGP-R, improving splice-switching ASO potency in vitro and in tumor models.

The paper identifies and characterizes long non-coding RNAs (lncRNAs) as potential therapeutic targets in mammary tumor progression by analyzing RNA-Seq data from mouse models and validating their function in tumor cells.