How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

(2016) Seyyedmohsen Hosseinibarkooie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Survival of motor neurone protein is required for normal postnatal development of the spleen

(2016) Alison K. Thomson et al.   JOURNAL OF ANATOMY

Intrathecal Injections in Children With Spinal Muscular Atrophy

(2016) Manon Haché et al.   JOURNAL OF CHILD NEUROLOGY

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

(2016) Richard S Finkel et al.   LANCET

Big win possible for Ionis/Biogen antisense drug in muscular atrophy

(2016) Ken Garber   NATURE BIOTECHNOLOGY

The neuromuscular impact of symptomatic SMN restoration in a mouse model of spinal muscular atrophy

(2016) W. Arnold et al.   NEUROBIOLOGY OF DISEASE

Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy

(2016) Claudia A. Chiriboga et al.   NEUROLOGY

Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment

(2016) Palittiya Sintusek et al.   PLoS One

Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy

(2016) Suzan M. Hammond et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Therapeutic activity of modified U1 core spliceosomal particles

(2016) Malgorzata Ewa Rogalska et al.   Nature Communications

Altered Levels of MicroRNA-9, -206, and -132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy

(2016) Francesco Catapano et al.   Molecular Therapy-Nucleic Acids

Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene

(2016) Joonbae Seo et al.   PLoS One

Selective Neuromuscular Denervation in Taiwanese Severe SMA Mouse Can Be Reversed by Morpholino Antisense Oligonucleotides

(2016) Te-Lin Lin et al.   PLoS One

Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration

(2016) W. David Arnold et al.   PLoS One

Severe impairment of male reproductive organ development in a low SMN expressing mouse model of spinal muscular atrophy

(2016) Eric W. Ottesen et al.   Scientific Reports

A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein

(2016) Joonbae Seo et al.   Scientific Reports

Survival Motor Neuron (SMN) protein is required for normal mouse liver development

(2016) Eva Szunyogova et al.   Scientific Reports

Splicing regulation in spinal muscular atrophy by an RNA structure formed by long-distance interactions

(2015) Natalia N. Singh et al.   Annals of the New York Academy of Sciences

Mechanisms and Regulation of Alternative Pre-mRNA Splicing

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

Mechanistic principles of antisense targets for the treatment of spinal muscular atrophy

(2015) Natalia N Singh et al.   Future Medicinal Chemistry

Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models

(2015) Yimin Hua et al.   GENES & DEVELOPMENT

SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice

(2015) Sara E. Gombash et al.   HUMAN MOLECULAR GENETICS

Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response

(2015) Haiyan Zhou et al.   HUMAN MOLECULAR GENETICS

Systemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy

(2015) Laurent P. Bogdanik et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Effect of Combined Systemic and Local Morpholino Treatment on the Spinal Muscular Atrophy Δ7 Mouse Model Phenotype

(2014) Monica Nizzardo et al.   CLINICAL THERAPEUTICS

Advances in therapeutic development for spinal muscular atrophy

(2014) Matthew D Howell et al.   Future Medicinal Chemistry

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

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

Spinal Muscular Atrophy: Journeying From Bench to Bedside

(2014) Tomoyuki Awano et al.   Neurotherapeutics

Spinal muscular atrophy: An update on therapeutic progress

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

A Novel Morpholino Oligomer Targeting ISS-N1 Improves Rescue of Severe Spinal Muscular Atrophy Transgenic Mice

(2013) Haiyan Zhou et al.   HUMAN GENE THERAPY

Dual Masking of Specific Negative Splicing Regulatory Elements Resulted in Maximal Exon 7 Inclusion of SMN2 Gene

(2013) Peng Wen Pao et al.   MOLECULAR THERAPY

An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy

(2013) Natalia N. Singh et al.   NUCLEIC ACIDS RESEARCH

Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy

(2013) Chalermchai Mitrpant et al.   PLoS One

Electrophysiological biomarkers in spinal muscular atrophy: proof of concept

(2013) W. David Arnold et al.   Annals of Clinical and Translational Neurology

Glucose metabolism and pancreatic defects in spinal muscular atrophy

(2012) Melissa Bowerman et al.   ANNALS OF NEUROLOGY

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

(2012) Julia Schreml et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Multi-Exon-Skipping Detection Assay Reveals Surprising Diversity of Splice Isoforms of Spinal Muscular Atrophy Genes

(2012) Natalia N. Singh et al.   PLoS One

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

(2011) Elaine A Sugarman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

Bifunctional RNAs Targeting the Intronic Splicing Silencer N1 Increase SMN Levels and Reduce Disease Severity in an Animal Model of Spinal Muscular Atrophy

(2011) Erkan Y Osman et al.   MOLECULAR THERAPY

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

(2011) Yimin Hua et al.   NATURE

Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model

(2011) Natalia N. Singh et al.   RNA Biology

Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy

(2011) M. A. Passini et al.   Science Translational Medicine

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

(2010) Y. Hua et al.   GENES & DEVELOPMENT

A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity

(2010) S. Cho et al.   GENES & DEVELOPMENT

Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice

(2010) Christopher R. Heier et al.   HUMAN MOLECULAR GENETICS

Cardiac defects contribute to the pathology of spinal muscular atrophy models

(2010) Monir Shababi et al.   HUMAN MOLECULAR GENETICS

TIA1 Prevents Skipping of a Critical Exon Associated with Spinal Muscular Atrophy

(2010) N. N. Singh et al.   MOLECULAR AND CELLULAR BIOLOGY

Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy

(2010) Magali Michaud et al.   NEUROBIOLOGY OF 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

An antisense microwalk reveals critical role of an intronic position linked to a unique long-distance interaction in pre-mRNA splicing

(2010) N. N. Singh et al.   RNA

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

Bone loss in survival motor neuron (Smn−/−SMN2) genetic mouse model of spinal muscular atrophy

(2009) Srinivasan Shanmugarajan et al.   JOURNAL OF PATHOLOGY

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

Regulation of SMN Protein Stability

(2008) B. G. Burnett et al.   MOLECULAR AND CELLULAR BIOLOGY