RNA-targeted splice-correction therapy for neuromuscular disease

A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy

(2010) Natalia N. Singh et al.   RNA Biology

Noncoding Mutations of HGF Are Associated with Nonsyndromic Hearing Loss, DFNB39

(2009) Julie M. Schultz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Efficacy of systemic morpholino exon-skipping in duchenne dystrophy dogs

(2009) Toshifumi Yokota et al.   ANNALS OF NEUROLOGY

The Centrality of RNA

(2009) Phillip A. Sharp   CELL

Rethinking ALS: The FUS about TDP-43

(2009) Clotilde Lagier-Tourenne et al.   CELL

A fusion peptide directs enhanced systemic dystrophin exon skipping and functional restoration in dystrophin-deficient mdx mice

(2009) HaiFang Yin et al.   HUMAN MOLECULAR GENETICS

Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy

(2009) T. D. Baughan et al.   HUMAN MOLECULAR GENETICS

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

(2009) Annemieke Aartsma-Rus et al.   HUMAN MUTATION

In vivocomparison of 2′-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping

(2009) Hans A. Heemskerk et al.   JOURNAL OF GENE MEDICINE

Oligonucleotide-Mediated Survival of Motor Neuron Protein Expression in CNS Improves Phenotype in a Mouse Model of Spinal Muscular Atrophy

(2009) J. H. Williams et al.   JOURNAL OF NEUROSCIENCE

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

(2009) Maria Kinali et al.   LANCET NEUROLOGY

Octa-guanidine Morpholino Restores Dystrophin Expression in Cardiac and Skeletal Muscles and Ameliorates Pathology in Dystrophic mdx Mice

(2009) Bo Wu et al.   MOLECULAR THERAPY

Cationic PMMA Nanoparticles Bind and Deliver Antisense Oligoribonucleotides Allowing Restoration of Dystrophin Expression in the mdx Mouse

(2009) Paola Rimessi et al.   MOLECULAR THERAPY

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

(2009) Arthur H. M. Burghes et al.   NATURE REVIEWS NEUROSCIENCE

Cardiogenetics, Neurogenetics, and Pathogenetics of Left Ventricular Hypertrabeculation/Noncompaction

(2009) Josef Finsterer   PEDIATRIC CARDIOLOGY

Pentamidine reverses the splicing defects associated with myotonic dystrophy

(2009) M. B. Warf et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy

(2009) S. A. M. Mulders et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

(2009) Y.-J. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reversal of RNA Dominance by Displacement of Protein Sequestered on Triplet Repeat RNA

(2009) T. M. Wheeler et al.   SCIENCE

RNA Gain-of-Function in Spinocerebellar Ataxia Type 8

(2009) Randy S. Daughters et al.   PLoS Genetics

Formulation of polylactide-co-glycolic acid nanospheres for encapsulation and sustained release of poly(ethylene imine)-poly(ethylene glycol) copolymers complexed to oligonucleotides

(2009) Shashank R Sirsi et al.   JOURNAL OF NANOBIOTECHNOLOGY

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

Assessment of the feasibility of exon 45–55 multiexon skipping for duchenne muscular dystrophy

(2008) Laura van Vliet et al.   BMC Medical Genetics

A deficit of brain dystrophin impairs specific amygdala GABAergic transmission and enhances defensive behaviour in mice

(2008) Masayuki Sekiguchi et al.   BRAIN

Is Good Housekeeping the Key to Motor Neuron Survival?

(2008) Kevin Talbot et al.   CELL

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

(2008) Zhenxi Zhang et al.   CELL

A Negatively Acting Bifunctional RNA Increases Survival Motor Neuron Both In Vitro and In Vivo

(2008) Alexa Dickson et al.   HUMAN GENE THERAPY

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

(2008) Kathrin Meyer et al.   HUMAN MOLECULAR GENETICS

Cell-penetrating peptide-conjugated antisense oligonucleotides restore systemic muscle and cardiac dystrophin expression and function

(2008) HaiFang Yin et al.   HUMAN MOLECULAR GENETICS

Treatment of AG129 mice with antisense morpholino oligomers increases survival time following challenge with dengue 2 virus

(2008) D. A. Stein et al.   JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY

Mechanisms of RNA-mediated Disease

(2008) Jason R. O'Rourke et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Beneficial effects of beta-blockers and angiotensin-converting enzyme inhibitors in Duchenne muscular dystrophy

(2008) Hitoko Ogata et al.   Journal of Cardiology

Emergent Dilated Cardiomyopathy Caused by Targeted Repair of Dystrophic Skeletal Muscle

(2008) DeWayne Townsend et al.   MOLECULAR THERAPY

Sustained Dystrophin Expression Induced by Peptide-conjugated Morpholino Oligomers in the Muscles of mdx Mice

(2008) Natee Jearawiriyapaisarn et al.   MOLECULAR THERAPY

Guidelines for Antisense Oligonucleotide Design and Insight Into Splice-modulating Mechanisms

(2008) Annemieke Aartsma-Rus et al.   MOLECULAR THERAPY

HITS-CLIP yields genome-wide insights into brain alternative RNA processing

(2008) Donny D. Licatalosi et al.   NATURE

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

(2008) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

Corticosteroid treatment retards development of ventricular dysfunction in Duchenne muscular dystrophy

(2008) Larry W. Markham et al.   NEUROMUSCULAR DISORDERS

Improved cell-penetrating peptide–PNA conjugates for splicing redirection in HeLa cells and exon skipping in mdx mouse muscle

(2008) Gabriela D. Ivanova et al.   NUCLEIC ACIDS RESEARCH

Effective rescue of dystrophin improves cardiac function in dystrophin-deficient mice by a modified morpholino oligomer

(2008) B. Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Effective Exon Skipping and Restoration of Dystrophin Expression by Peptide Nucleic Acid Antisense Oligonucleotides in mdx Mice

(2007) Haifang Yin et al.   MOLECULAR THERAPY