RNA-Targeting Splicing Modifiers: Drug Development and Screening Assays

Antisense Technology: A Review

(2021) Stanley T. Crooke et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Antisense technology: an overview and prospectus

(2021) Stanley T. Crooke et al.   NATURE REVIEWS DRUG DISCOVERY

Golodirsen: First Approval

(2020) Young-A Heo   DRUGS

Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis

(2020) Erik Landfeldt et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy

(2020) Diane E. Frank et al.   NEUROLOGY

tRNA: Splicing and Intron Turnover

(2020) Anita K. Hopper et al.   FASEB JOURNAL

Design, Optimization, and Study of Small Molecules That Target Tau Pre-mRNA and Affect Splicing

(2020) Jonathan L. Chen et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Development of disease-modifying drugs for frontotemporal dementia spectrum disorders

(2020) Francesco Panza et al.   Nature Reviews Neurology

Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping

(2020) Paula R. Clemens et al.   JAMA Neurology

Viltolarsen: First Approval

(2020) Sohita Dhillon   DRUGS

Structural and functional conservation of the programmed −1 ribosomal frameshift signal of SARS coronavirus 2 (SARS-CoV-2)

(2020) Jamie A. Kelly et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Advances in oligonucleotide drug delivery

(2020) Thomas C. Roberts et al.   NATURE REVIEWS DRUG DISCOVERY

Four Decades of HIV/AIDS — Much Accomplished, Much to Do

(2020) Anthony S. Fauci et al.   NEW ENGLAND JOURNAL OF MEDICINE

Restorative treatments of dystrophin expression in Duchenne muscular dystrophy: A systematic review

(2020) Carlos Pascual‐Morena et al.   Annals of Clinical and Translational Neurology

New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges

(2020) Sonia Messina et al.   Journal of Clinical Medicine

Risdiplam: First Approval

(2020) Sohita Dhillon   DRUGS

Oral Drug Approved for Spinal Muscular Atrophy

(2020) Mary Chris Jaklevic   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Identification of SRSF10 as a regulator of SMN2 ISS‐N1

(2020) Sabrina B. Frederiksen et al.   HUMAN MUTATION

Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies

(2019) Liang Wang et al.   Frontiers in Genetics

Intraperitoneal delivery of a novel drug‐like compound improves disease severity in severe and intermediate mouse models of Spinal Muscular Atrophy

(2019) E. Y. Osman et al.   Scientific Reports

Perspectives on targeting RNA with small molecules to capture opportunities at the intersection of chemistry, biology, and medicine

(2019) Matthew D. Disney   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Advances in CRISPR-Cas systems for RNA targeting, tracking and editing

(2019) Fei Wang et al.   BIOTECHNOLOGY ADVANCES

Therapeutic Antisense Oligonucleotides Are Coming of Age

(2019) C. Frank Bennett   Annual Review of Medicine

In vivo analysis of influenza A mRNA secondary structures identifies critical regulatory motifs

(2019) Lisa Marie Simon et al.   NUCLEIC ACIDS RESEARCH

The structure of the influenza A virus genome

(2019) Bernadeta Dadonaite et al.   Nature Microbiology

The biogenesis, biology and characterization of circular RNAs

(2019) Lasse S. Kristensen et al.   NATURE REVIEWS GENETICS

Structural basis of a small molecule targeting RNA for a specific splicing correction

(2019) Sébastien Campagne et al.   Nature Chemical Biology

RNA Splicing by the Spliceosome

(2019) Max E. Wilkinson et al.   Annual Review of Biochemistry

The dynamic proteome of influenza A virus infection identifies M segment splicing as a host range determinant

(2019) Boris Bogdanow et al.   Nature Communications

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model

(2018) Irving Donadon et al.   HUMAN MOLECULAR GENETICS

Principles for targeting RNA with drug-like small molecules

(2018) Katherine Deigan Warner et al.   NATURE REVIEWS DRUG DISCOVERY

A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy

(2018) Nathalie Goemans et al.   NEUROMUSCULAR DISORDERS

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

(2018) Eugenio Mercuri et al.   NEW ENGLAND JOURNAL OF MEDICINE

Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells

(2018) Gitte H Bruun et al.   NUCLEIC ACIDS RESEARCH

Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice

(2018) Rahul Sinha et al.   NUCLEIC ACIDS RESEARCH

Splicing regulation by long noncoding RNAs

(2018) Natali Romero-Barrios et al.   NUCLEIC ACIDS RESEARCH

Mechanistic studies of a small-molecule modulator of SMN2 splicing

(2018) Jingxin Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes

(2018) Amparo Garcia-Lopez et al.   Nature Communications

Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 (SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA)

(2018) Hasane Ratni et al.   JOURNAL OF MEDICINAL CHEMISTRY

Lariat intronic RNAs in the cytoplasm of vertebrate cells

(2018) Gaëlle J. S. Talhouarne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Discovery of Small Molecule Splicing Modulators of Survival Motor Neuron-2 (SMN2) for the Treatment of Spinal Muscular Atrophy (SMA)

(2018) Atwood K. Cheung et al.   JOURNAL OF MEDICINAL CHEMISTRY

CRISPR-Based Technologies: Impact of RNA-Targeting Systems

(2018) Michael P. Terns   MOLECULAR CELL

Small molecules that target group II introns are potent antifungal agents

(2018) Olga Fedorova et al.   Nature Chemical Biology

Peptide nucleic acids: Advanced tools for biomedical applications

(2017) Anjali Gupta et al.   JOURNAL OF BIOTECHNOLOGY

Characterizing HIV-1 Splicing by Using Next-Generation Sequencing

(2017) Ann Emery et al.   JOURNAL OF VIROLOGY

Mechanistic insights into precursor messenger RNA splicing by the spliceosome

(2017) Yigong Shi   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Alternative splicing as a regulator of development and tissue identity

(2017) Francisco E. Baralle et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Familial dysautonomia: History, genotype, phenotype and translational research

(2017) Lucy Norcliffe-Kaufmann et al.   PROGRESS IN NEUROBIOLOGY

Structural Insights into the Mechanism of Group II Intron Splicing

(2017) Chen Zhao et al.   TRENDS IN BIOCHEMICAL SCIENCES

Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers

(2017) Manaswini Sivaramakrishnan et al.   Nature Communications

Eteplirsen in the treatment of Duchenne muscular dystrophy

(2017) Kenji Rowel Lim et al.   Drug Design Development and Therapy

Molecular Mechanisms of Antisense Oligonucleotides

(2017) Stanley T. Crooke   Nucleic Acid Therapeutics

2′-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping

(2017) Tomoko Lee et al.   Genes

Parkinson disease

(2017) Werner Poewe et al.   Nature Reviews Disease Primers

Inforna 2.0: A Platform for the Sequence-Based Design of Small Molecules Targeting Structured RNAs

(2016) Matthew D. Disney et al.   ACS Chemical Biology

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

(2016) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

Group II Intron Self-Splicing

(2016) Anna Marie Pyle   Annual Review of Biophysics

The hnRNP family: insights into their role in health and disease

(2016) Thomas Geuens et al.   HUMAN GENETICS

Specific Correction of Alternative Survival Motor Neuron 2 Splicing by Small Molecules: Discovery of a Potential Novel Medicine To Treat Spinal Muscular Atrophy

(2016) Hasane Ratni et al.   JOURNAL OF MEDICINAL CHEMISTRY

Optimization of Morpholino Antisense Oligonucleotides Targeting the Intronic Repressor Element1 in Spinal Muscular Atrophy

(2016) Erkan Y Osman et al.   MOLECULAR THERAPY

Splice-switching antisense oligonucleotides as therapeutic drugs

(2016) Mallory A. Havens et al.   NUCLEIC ACIDS RESEARCH

Exon Junction Complexes: Supervising the Gene Expression Assembly Line

(2016) Volker Boehm et al.   TRENDS IN GENETICS

Genetic Architecture of MAPT Gene Region in Parkinson Disease Subtypes

(2016) Esterina Pascale et al.   Frontiers in Cellular Neuroscience

GeneBase 1.1: a tool to summarize data from NCBI gene datasets and its application to an update of human gene statistics

(2016) Allison Piovesan et al.   Database-The Journal of Biological Databases and Curation

Pharmacokinetics, biodistribution and cell uptake of antisense oligonucleotides

(2015) Richard S. Geary et al.   ADVANCED DRUG DELIVERY REVIEWS

Mechanisms and Regulation of Alternative Pre-mRNA Splicing

(2015) Yeon Lee et al.   Annual Review of Biochemistry

Structural Features of a 3′ Splice Site in Influenza A

(2015) Jonathan L. Chen et al.   BIOCHEMISTRY

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

(2015) Catherine L. Bladen et al.   HUMAN MUTATION

SMN2 splice modulators enhance U1–pre-mRNA association and rescue SMA mice

(2015) James Palacino et al.   Nature Chemical Biology

RNA mis-splicing in disease

(2015) Marina M. Scotti et al.   NATURE REVIEWS GENETICS

The exon junction complex as a node of post-transcriptional networks

(2015) Hervé Le Hir et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

FUBP1: a new protagonist in splicing regulation of the DMD gene

(2015) Julie Miro et al.   NUCLEIC ACIDS RESEARCH

Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia

(2015) Mayumi Yoshida et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

(2015) Jonas Juan-Mateu et al.   PLoS One

Template-directed synthesis of a small molecule-antisense conjugate targeting an mRNA structure

(2014) Yang Liu et al.   BIOORGANIC CHEMISTRY

Bottom-up Design of Small Molecules that Stimulate Exon 10 Skipping in MutantMAPTPre-mRNA

(2014) Yiling Luo et al.   CHEMBIOCHEM

Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models

(2014) Erkan Y. Osman et al.   HUMAN MOLECULAR GENETICS

The Splicing Factor FUBP1 Is Required for the Efficient Splicing of OncogeneMDM2Pre-mRNA

(2014) Aishwarya G. Jacob et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sequence-based design of bioactive small molecules that target precursor microRNAs

(2014) Sai Pradeep Velagapudi et al.   Nature Chemical Biology

Targeting SR Proteins Improves SMN Expression in Spinal Muscular Atrophy Cells

(2014) Claribel D. Wee et al.   PLoS One

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

(2014) N. A. Naryshkin et al.   SCIENCE

Influenza Viruses and mRNA Splicing: Doing More with Less

(2014) J. Dubois et al.   mBio

Antifungal Drug Development: Challenges, Unmet Clinical Needs, and New Approaches

(2014) T. Roemer et al.   Cold Spring Harbor Perspectives in Medicine

Bacterial group I introns: mobile RNA catalysts

(2014) Georg Hausner et al.   Mobile DNA

Antisense-mediated Exon Skipping Decreases Tau Protein Expression: A Potential Therapy For Tauopathies

(2014) Reeteka Sud et al.   Molecular Therapy-Nucleic Acids

tRNA gene diversity in the three domains of life

(2014) Kosuke Fujishima et al.   Frontiers in Genetics

Handling tRNA introns, archaeal way and eukaryotic way

(2014) Tohru Yoshihisa   Frontiers in Genetics

Neurodegenerative Disorder FTDP-17–Related Tau Intron 10 +16C→T Mutation Increases Tau Exon 10 Splicing and Causes Tauopathy in Transgenic Mice

(2013) Tomohiro Umeda et al.   AMERICAN JOURNAL OF PATHOLOGY

Eteplirsen for the treatment of Duchenne muscular dystrophy

(2013) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

Regulation of splicing by SR proteins and SR protein-specific kinases

(2013) Zhihong Zhou et al.   CHROMOSOMA

tRNA gene copy number variation in humans

(2013) James R. Iben et al.   GENE

Far upstream element-binding protein 1 and RNA secondary structure both mediate second-step splicing repression

(2013) H. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ebola Virus RNA Editing Depends on the Primary Editing Site Sequence and an Upstream Secondary Structure

(2013) Masfique Mehedi et al.   PLoS Pathogens

Pyrrole-Imidazole Polyamides Distinguish Between Double-Helical DNA and RNA

(2012) David M. Chenoweth et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Diversity and roles of (t)RNA ligases

(2012) Johannes Popow et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

A Quantitative High-Throughput In Vitro Splicing Assay Identifies Inhibitors of Spliceosome Catalysis

(2012) M. G. Berg et al.   MOLECULAR AND CELLULAR BIOLOGY

Advanced Fluorescence Microscopy Techniques—FRAP, FLIP, FLAP, FRET and FLIM

(2012) Hellen C. Ishikawa-Ankerhold et al.   MOLECULES

Quantifying the chemical beauty of drugs

(2012) G. Richard Bickerton et al.   Nature Chemistry

RNA therapeutics: beyond RNA interference and antisense oligonucleotides

(2012) Ryszard Kole et al.   NATURE REVIEWS DRUG DISCOVERY

Targeting a pre-mRNA structure with bipartite antisense molecules modulates tau alternative splicing

(2012) Eleanor Peacey et al.   NUCLEIC ACIDS RESEARCH

The influenza A segment 7 mRNA 3′ splice site pseudoknot/hairpin family

(2012) Walter N. Moss et al.   RNA Biology

Stability and Mismatch Discrimination of Locked Nucleic Acid–DNA Duplexes

(2011) Richard Owczarzy et al.   BIOCHEMISTRY

Strategies to improve in vivo toxicology outcomes for basic candidate drug molecules

(2011) Tim Luker et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse

(2011) Paul N. Porensky et al.   HUMAN MOLECULAR GENETICS

A screen for regulators of survival of motor neuron protein levels

(2011) Nina R Makhortova et al.   Nature Chemical Biology

Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia

(2011) Felicia B Axelrod et al.   PEDIATRIC RESEARCH

Evolution of introns in the archaeal world

(2011) G. D. Tocchini-Valentini et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of potential conserved RNA secondary structure throughout influenza A coding regions

(2011) W. N. Moss et al.   RNA

Incidence of familial dysautonomia in Israel 1977-1981

(2010) Ch. Maayan et al.   CLINICAL GENETICS

Tau in Alzheimer Disease and Related Tauopathies

(2010) K. Iqbal et al.   Current Alzheimer Research

Nuclear RNA Export and Packaging Functions of HIV-1 Rev Revisited

(2010) M. Blissenbach et al.   JOURNAL OF VIROLOGY

Structural and functional evolution of group II intron ribozymes: Insights from unusual elements carrying a 3′ extension

(2010) Nicolas J. Tourasse et al.   New Biotechnology

Small molecules of different origins have distinct distributions of structural complexity that correlate with protein-binding profiles

(2010) P. A. Clemons et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Group II Introns: Mobile Ribozymes that Invade DNA

(2010) A. M. Lambowitz et al.   Cold Spring Harbor Perspectives in Biology

Structural Basis for Stabilization of the Tau Pre-mRNA Splicing Regulatory Element by Novantrone (Mitoxantrone)

(2009) Suxin Zheng et al.   CHEMISTRY & BIOLOGY

The RNA-induced Silencing Complex: A Versatile Gene-silencing Machine

(2009) Ashley J. Pratt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches

(2009) Mo Chen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice

(2008) Yimin Hua et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The multifunctional NS1 protein of influenza A viruses

(2008) B. G. Hale et al.   JOURNAL OF GENERAL VIROLOGY

Human Papillomavirus Type 16 E2 Protein Transcriptionally Activates the Promoter of a Key Cellular Splicing Factor, SF2/ASF

(2008) S. Mole et al.   JOURNAL OF VIROLOGY

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET

A high-throughput screening strategy identifies cardiotonic steroids as alternative splicing modulators

(2008) P. Stoilov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Crystal Structure of a Self-Spliced Group II Intron

(2008) N. Toor et al.   SCIENCE