Modulation of aberrant splicing in human RNA diseases by chemical compounds

Mutant U2AF1-expressing cells are sensitive to pharmacological modulation of the spliceosome

(2017) Cara Lunn Shirai et al.   Nature Communications

FDA Approves Eteplirsen for Duchenne Muscular Dystrophy: The Next Chapter in the Eteplirsen Saga

(2017) Annemieke Aartsma-Rus et al.   Nucleic Acid Therapeutics

Contributions of Japanese patients to development of antisense therapy for DMD

(2016) Masafumi Matsuo et al.   BRAIN & DEVELOPMENT

Gene therapies that restore dystrophin expression for the treatment of Duchenne muscular dystrophy

(2016) Jacqueline N. Robinson-Hamm et al.   HUMAN GENETICS

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

(2016) Thomas Geuens et al.   HUMAN GENETICS

Eteplirsen Approved for Duchenne Muscular Dystrophy: The FDA Faces a Difficult Choice

(2016) Cy A Stein   MOLECULAR THERAPY

Modulation of splicing catalysis for therapeutic targeting of leukemia with mutations in genes encoding spliceosomal proteins

(2016) Stanley Chun-Wei Lee et al.   NATURE MEDICINE

Exon skipping therapy for Duchenne muscular dystrophy

(2015) Ryszard Kole et al.   ADVANCED DRUG DELIVERY REVIEWS

Mechanisms and Regulation of Alternative Pre-mRNA Splicing

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

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

(2015) James Palacino et al.   Nature Chemical Biology

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

Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point

(2015) Rachel B. Darman et al.   Cell Reports

Transcriptome Sequencing Reveals Potential Mechanism of Cryptic 3’ Splice Site Selection in SF3B1-mutated Cancers

(2015) Christopher DeBoever et al.   PLoS Computational Biology

Context-dependent control of alternative splicing by RNA-binding proteins

(2014) Xiang-Dong Fu et al.   NATURE REVIEWS GENETICS

The RNAissance family: SR proteins as multifaceted regulators of gene expression

(2014) Jonathan M. Howard et al.   Wiley Interdisciplinary Reviews-RNA

Spinal muscular atrophy: An update on therapeutic progress

(2013) Joonbae Seo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The genetic basis of myelodysplasia and its clinical relevance

(2013) M. Cazzola et al.   BLOOD

Phase I Pharmacokinetic and Pharmacodynamic Study of the First-in-Class Spliceosome Inhibitor E7107 in Patients with Advanced Solid Tumors

(2013) F. A. L. M. Eskens et al.   CLINICAL CANCER RESEARCH

Molecular Therapeutic Strategies for Spinal Muscular Atrophies: Current and Future Clinical Trials

(2013) Chiara Zanetta et al.   CLINICAL THERAPEUTICS

Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model

(2013) Ron Bochner et al.   HUMAN MOLECULAR GENETICS

A phase I, open-label, single-arm, dose-escalation study of E7107, a precursor messenger ribonucleic acid (pre-mRNA) splicesome inhibitor administered intravenously on days 1 and 8 every 21 days to patients with solid tumors

(2013) D. S. Hong et al.   INVESTIGATIONAL NEW DRUGS

Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches

(2013) Rebecca J. Fairclough et al.   NATURE REVIEWS GENETICS

Dantrolene Enhances Antisense-Mediated Exon Skipping in Human and Mouse Models of Duchenne Muscular Dystrophy

(2012) G. C. Kendall et al.   Science Translational Medicine

Exon and intron definition in pre-mRNA splicing

(2012) Laura De Conti et al.   Wiley Interdisciplinary Reviews-RNA

Sudemycins, Novel Small Molecule Analogues of FR901464, Induce Alternative Gene Splicing

(2011) Liying Fan et al.   ACS Chemical Biology

Reduced fidelity of branch point recognition and alternative splicing induced by the anti-tumor drug spliceostatin A

(2011) A. Corrionero et al.   GENES & DEVELOPMENT

The anti-tumor drug E7107 reveals an essential role for SF3b in remodeling U2 snRNP to expose the branch point-binding region

(2011) E. G. Folco et al.   GENES & DEVELOPMENT

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia

(2011) Felicia B Axelrod et al.   PEDIATRIC RESEARCH

Understanding splicing regulation through RNA splicing maps

(2011) Joshua T. Witten et al.   TRENDS IN GENETICS

Chemical treatment enhances skipping of a mutated exon in the dystrophin gene

(2011) Atsushi Nishida et al.   Nature Communications

Identification of SAP155 as the Target of GEX1A (Herboxidiene), an Antitumor Natural Product

(2010) Makoto Hasegawa et al.   ACS Chemical Biology

A rational nomenclature for serine/arginine-rich protein splicing factors (SR proteins)

(2010) J. L. Manley et al.   GENES & DEVELOPMENT

Expansion of the eukaryotic proteome by alternative splicing

(2010) Timothy W. Nilsen et al.   NATURE

Visualization and genetic analysis of alternative splicing regulation in vivo using fluorescence reporters in transgenic Caenorhabditis elegans

(2010) Hidehito Kuroyanagi et al.   Nature Protocols

Splicing Reporter Mice Revealed the Evolutionally Conserved Switching Mechanism of Tissue-Specific Alternative Exon Selection

(2010) Akihide Takeuchi et al.   PLoS One

Phosphatidylserine Increases IKBKAP Levels in Familial Dysautonomia Cells

(2010) Hadas Keren et al.   PLoS One

Patterns of exon-intron architecture variation of genes in eukaryotic genomes

(2009) Liucun Zhu et al.   BMC GENOMICS

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Tetracyclines That Promote SMN2 Exon 7 Splicing as Therapeutics for Spinal Muscular Atrophy

(2009) M. L. Hastings et al.   Science Translational Medicine

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

(2008) Qun Pan et al.   NATURE GENETICS