Frank Rigo
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View article: Therapeutic antisense oligonucleotide mitigates retinal dysfunction in a pig model of CLN3 Batten disease.
Therapeutic antisense oligonucleotide mitigates retinal dysfunction in a pig model of CLN3 Batten disease. Open
CLN3 Batten disease is a lethal pediatric neurodegenerative disease caused by mutations in the CLN3 gene. Typically, the disease manifests as vision loss in early childhood and progresses to neurological dysfunction and death in young adul…
View article: Synthesis, Incorporation, and Translation Properties of Threose Nucleic Acid Modified Trinucleotide Cap Analogs
Synthesis, Incorporation, and Translation Properties of Threose Nucleic Acid Modified Trinucleotide Cap Analogs Open
Enhancing protein translation remains a key objective in the continued development of mRNA-based therapeutics. One promising strategy involves the chemical modification of the 5' mRNA cap that is essential for RNA stability and translation…
View article: Enhanced splicing modulation by NMA-modified antisense oligonucleotides
Enhanced splicing modulation by NMA-modified antisense oligonucleotides Open
Aberrant RNA splicing contributes to many human diseases, and splice‑switching antisense oligonucleotides (SSOs) are ideally suited as a therapeutic strategy to modulate splicing and restore normal gene expression. Nusinersen (Spinraza™) h…
View article: TDP-43 pathology triggers SRRM4-dependent cryptic splicing of G3BP1 in ALS/FTD
TDP-43 pathology triggers SRRM4-dependent cryptic splicing of G3BP1 in ALS/FTD Open
SUMMARY Loss of nuclear TDP-43 is a defining feature of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), yet how this leads to selective neuronal vulnerability is poorly understood. Here…
View article: An alternative cytoplasmic SFPQ isoform with reduced phase separation potential is up-regulated in ALS
An alternative cytoplasmic SFPQ isoform with reduced phase separation potential is up-regulated in ALS Open
Splicing factor proline- and glutamine-rich (SFPQ) is an RNA binding protein that broadly regulates RNA metabolism. Although its nuclear roles are well studied, evidence of SFPQ’s cytoplasmic functionality is emerging. Altered expression a…
View article: Antisense oligonucleotide therapy for patients with Friedreich’s ataxia carrying the c.165+5G>C splicing mutation
Antisense oligonucleotide therapy for patients with Friedreich’s ataxia carrying the c.165+5G>C splicing mutation Open
Friedreich's ataxia (FRDA) is a multisystem, progressive disease. 96% of patients carry biallelic GAA triplet expansion mutations in intron 1 of the frataxin gene (FXN). The remaining 4% have a pathogenic GAA expansion on one FXN allele an…
View article: Therapeutic antisense oligonucleotide mitigates retinal dysfunction in a pig model of CLN3 Batten disease
Therapeutic antisense oligonucleotide mitigates retinal dysfunction in a pig model of CLN3 Batten disease Open
CLN3 Batten disease is a lethal pediatric autosomal recessive neurodegenerative disease caused by mutations in the CLN3 gene. Typically, the disease manifests as vision loss early in life and progresses to neurological dysfunction and deat…
View article: Conjugation to a transferrin receptor 1-binding Bicycle peptide enhances ASO and siRNA potency in skeletal and cardiac muscles
Conjugation to a transferrin receptor 1-binding Bicycle peptide enhances ASO and siRNA potency in skeletal and cardiac muscles Open
Improving the delivery of antisense oligonucleotides (ASOs) and small interfering RNAs (siRNAs) to skeletal and cardiac muscles remains a pivotal task toward the broader application of oligonucleotide therapeutics. The targeting of myofibe…
View article: Modeling antisense oligonucleotide therapy in <i>MECP2</i> duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels
Modeling antisense oligonucleotide therapy in <i>MECP2</i> duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels Open
Genomic copy-number variations (CNVs) that can cause neurodevelopmental disorders often encompass many genes, which complicates our understanding of how individual genes within a CNV contribute to pathology. MECP2 duplication syndrome (MDS…
View article: Reduction of RAD23A extends lifespan and mitigates pathology in TDP-43 mice
Reduction of RAD23A extends lifespan and mitigates pathology in TDP-43 mice Open
Protein misfolding and aggregation are cardinal features of neurodegenerative disease (NDD) and they contribute to pathophysiology by both loss-of-function (LOF) and gain-of-function (GOF) mechanisms. This is well exemplified by TDP-43 whi…
View article: Reduction of RAD23A extends lifespan and mitigates pathology in TDP-43 mice
Reduction of RAD23A extends lifespan and mitigates pathology in TDP-43 mice Open
Protein misfolding and aggregation are cardinal features of neurodegenerative disease (NDD) and they contribute to pathophysiology by both loss-of-functon(LOF) and gain-of-functon(GOF) mechanisms. This is well exemplified by TDP-43 which a…
View article: Elevating microRNA levels by targeting biogenesis with steric-blocking antisense oligonucleotides
Elevating microRNA levels by targeting biogenesis with steric-blocking antisense oligonucleotides Open
MicroRNAs (miRNAs) are regulators of gene expression, and their dysregulation is linked to cancer and other diseases, making them important therapeutic targets. Several strategies for targeting and modulating miRNA activity are being explo…
View article: Targeting alternative splicing of fibronectin in human renal proximal tubule epithelial cells with antisense oligonucleotides to reduce EDA+ fibronectin production and block an autocrine loop that drives renal fibrosis
Targeting alternative splicing of fibronectin in human renal proximal tubule epithelial cells with antisense oligonucleotides to reduce EDA+ fibronectin production and block an autocrine loop that drives renal fibrosis Open
TGFβ1 is a powerful regulator of fibrosis; secreted in a latent form, it becomes active after release from the latent complex. During tissue fibrosis, the EDA + isoform of cellular fibronectin is overexpressed. In pulmonary fibrosis it has…
View article: Investigating 4R tau isoform imbalance as a mediator of astrocyte dysfunction in tauopathies
Investigating 4R tau isoform imbalance as a mediator of astrocyte dysfunction in tauopathies Open
Background Select primary tauopathies exhibit MAPT (tau) mis‐splicing to produce an imbalance of 3R and 4R tau isoforms. Further, 3R and 4R tau isoforms deposit in neurons and glia in tauopathy patients, although it remains unclear whether…
View article: Modulation of Gene Expression in the Eye with Antisense Oligonucleotides
Modulation of Gene Expression in the Eye with Antisense Oligonucleotides Open
One advantage of antisense oligonucleotides (ASOs) for drug development is their long-lasting gene knockdown after administration in vivo. In this study, we examine the effect on gene expression after intraocular injection in target tissue…
View article: Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy
Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy Open
Developmental and epileptic encephalopathies (DEEs) are severe seizure disorders with inadequate treatment options. Gain- or loss-of-function mutations of neuronal ion channel genes, including potassium channels and voltage-gated sodium ch…
View article: Genetic Downregulation of the Metabotropic Glutamate Receptor Type 5 Dampens the Reactive and Neurotoxic Phenotype of Adult ALS Astrocytes
Genetic Downregulation of the Metabotropic Glutamate Receptor Type 5 Dampens the Reactive and Neurotoxic Phenotype of Adult ALS Astrocytes Open
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive degeneration of motor neurons (MNs). Astrocytes display a toxic phenotype in ALS, which results in MN damage. Glutamate (Glu)-mediated ex…
View article: The RNA-binding proteins hnRNP H and F regulate splicing of a MYC-dependent HRAS exon in prostate cancer cells
The RNA-binding proteins hnRNP H and F regulate splicing of a MYC-dependent HRAS exon in prostate cancer cells Open
The MYC proto-oncogene contributes to the pathogenesis of more than half of human cancers. Malignant transformation by MYC transcriptionally up-regulates the core pre-mRNA splicing machinery and causes misregulation of alternative splicing…
View article: Reduction of nemo-like kinase increases lysosome biogenesis and ameliorates TDP-43–related neurodegeneration
Reduction of nemo-like kinase increases lysosome biogenesis and ameliorates TDP-43–related neurodegeneration Open
Protein aggregation is a hallmark of many neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS). Although mutations in TARDBP, encoding transactive response DNA-binding protein 43 kDa (TDP-43), account for less than 1%…
View article: G<sub>2</sub>C<sub>4</sub>targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in C9orf72 ALS/FTD human neurons
G<sub>2</sub>C<sub>4</sub>targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in C9orf72 ALS/FTD human neurons Open
The G 4 C 2 repeat expansion in the C9orf72 gene is the most common genetic cause of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Many studies suggest that dipeptide repeat proteins produced from this repeat are toxic, yet, t…
View article: Targeting Transferrin Receptor to Transport Antisense Oligonucleotides Across the Blood-Brain Barrier
Targeting Transferrin Receptor to Transport Antisense Oligonucleotides Across the Blood-Brain Barrier Open
Antisense oligonucleotides (ASO) are promising therapies for neurological disorders, though they are unable to cross the blood-brain barrier (BBB) and must be delivered directly to the central nervous system (CNS). Here, we use a human tra…
View article: ASO silencing of a glycosyltransferase, Poglut1, improves the liver phenotypes in mouse models of Alagille syndrome
ASO silencing of a glycosyltransferase, Poglut1, improves the liver phenotypes in mouse models of Alagille syndrome Open
Background and Aims: Paucity of intrahepatic bile ducts (BDs) is caused by various etiologies and often leads to cholestatic liver disease. For example, in patients with Alagille syndrome (ALGS), which is a genetic disease primarily caused…
View article: Early activation of cellular stress and death pathways caused by cytoplasmic TDP-43 in the rNLS8 mouse model of ALS and FTD
Early activation of cellular stress and death pathways caused by cytoplasmic TDP-43 in the rNLS8 mouse model of ALS and FTD Open
TAR DNA binding protein 43 (TDP-43) pathology is a key feature of over 95% of amyotrophic lateral sclerosis (ALS) and nearly half of frontotemporal dementia (FTD) cases. The pathogenic mechanisms of TDP-43 dysfunction are poorly understood…
View article: Supplementary Table from ASO-Based PKM Splice-Switching Therapy Inhibits Hepatocellular Carcinoma Growth
Supplementary Table from ASO-Based PKM Splice-Switching Therapy Inhibits Hepatocellular Carcinoma Growth Open
Supplementary Table from ASO-Based PKM Splice-Switching Therapy Inhibits Hepatocellular Carcinoma Growth
View article: Data from ASO-Based PKM Splice-Switching Therapy Inhibits Hepatocellular Carcinoma Growth
Data from ASO-Based PKM Splice-Switching Therapy Inhibits Hepatocellular Carcinoma Growth Open
The M2 pyruvate kinase (PKM2) isoform is upregulated in most cancers and plays a crucial role in regulation of the Warburg effect, which is characterized by the preference for aerobic glycolysis over oxidative phosphorylation for energy me…