Investigational therapies for the treatment of spinal muscular atrophy

PTEN Depletion Decreases Disease Severity and Modestly Prolongs Survival in a Mouse Model of Spinal Muscular Atrophy

(2015) Daniel Little et al.   MOLECULAR THERAPY

Assays for the Identification and Prioritization of Drug Candidates for Spinal Muscular Atrophy

(2014) Jonathan J. Cherry et al.   ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES

Oligonucleotide-based therapy for neurodegenerative diseases

(2014) Iddo Magen et al.   BRAIN RESEARCH

The effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice

(2014) Matthew E.R. Butchbach et al.   EXPERIMENTAL NEUROLOGY

Oligonucleotide delivery: a patent review (2010 – 2013)

(2014) Santiago Grijalvo et al.   EXPERT OPINION ON THERAPEUTIC PATENTS

Gene Therapy: A Promising Approach to Treating Spinal Muscular Atrophy

(2014) Pádraig J. Mulcahy et al.   HUMAN GENE THERAPY

SMN regulates axonal local translation via miR-183/mTOR pathway

(2014) Min Jeong Kye et al.   HUMAN MOLECULAR GENETICS

Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

(2014) Thomas M. Wishart et al.   JOURNAL OF CLINICAL INVESTIGATION

G.O.17

(2014) R.S. Finkel et al.   NEUROMUSCULAR DISORDERS

VPAC2 receptor agonist BAY 55-9837 increases SMN protein levels and moderates disease phenotype in severe spinal muscular atrophy mouse models

(2014) Jeremiah Hadwen et al.   Orphanet Journal of Rare Diseases

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

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

ROCK inhibition as a therapy for spinal muscular atrophy: understanding the repercussions on multiple cellular targets

(2014) Emmanuelle Coque et al.   Frontiers in Neuroscience

How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches

(2013) Brunhilde Wirth et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Histone Acetylation as a Potential Therapeutic Target in Motor Neuron Degenerative Diseases

(2013) Lutz Garbes et al.   CURRENT PHARMACEUTICAL DESIGN

Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds

(2013) Jonathan J. Cherry et al.   EMBO Molecular Medicine

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

(2013) Haiyan Zhou et al.   HUMAN GENE THERAPY

The DcpS inhibitor RG3039 improves motor function in SMA mice

(2013) James P. Van Meerbeke et al.   HUMAN MOLECULAR GENETICS

The Neuroprotective Drug Riluzole Acts via Small Conductance Ca2+-Activated K+ Channels to Ameliorate Defects in Spinal Muscular Atrophy Models

(2013) M. Dimitriadi et al.   JOURNAL OF NEUROSCIENCE

SMA valiant trial: A prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy

(2013) John T. Kissel et al.   MUSCLE & NERVE

O.9 First-in-human phase I study to assess safety, tolerability and dose for intrathecal injection of ISIS-SMNRx in SMA patients

(2013) K. Swoboda et al.   NEUROMUSCULAR DISORDERS

Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study

(2013) J. Kirschner et al.   NEUROMUSCULAR DISORDERS

Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy

(2012) Melissa Bowerman et al.   BMC Medicine

Spinal muscular atrophy: The role of SMN in axonal mRNA regulation

(2012) Claudia Fallini et al.   BRAIN RESEARCH

Therapeutic strategies for the treatment of spinal muscular atrophy

(2012) Jonathan J Cherry et al.   Future Medicinal Chemistry

VPA response in SMA is suppressed by the fatty acid translocase CD36

(2012) L. Garbes et al.   HUMAN MOLECULAR GENETICS

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality

(2012) Bastian Ackermann et al.   HUMAN MOLECULAR GENETICS

The specific VPAC2 agonist Bay 55-9837 increases neuronal damage and hemorrhagic transformation after stroke in type 2 diabetic rats

(2012) Vladimer Darsalia et al.   NEUROPEPTIDES

Analysis of a read-through promoting compound in a severe mouse model of spinal muscular atrophy

(2012) Virginia B. Mattis et al.   NEUROSCIENCE LETTERS

Decreasing Disease Severity in Symptomatic, Smn−/−;SMN2+/+, Spinal Muscular Atrophy Mice Following scAAV9-SMN Delivery

(2011) Jacqueline J. Glascock et al.   HUMAN GENE THERAPY

Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice

(2011) Deborah Y. Kwon et al.   HUMAN MOLECULAR GENETICS

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

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

Discovery, Synthesis, and Biological Evaluation of Novel SMN Protein Modulators

(2011) Jingbo Xiao et al.   JOURNAL OF MEDICINAL CHEMISTRY

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

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

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

RNA Targeting Therapeutics: Molecular Mechanisms of Antisense Oligonucleotides as a Therapeutic Platform

(2010) C. Frank Bennett et al.   Annual Review of Pharmacology and Toxicology

Splicing regulation of the Survival Motor Neuron genes and implications for treatment of spinal muscular atrophy

(2010) Thomas et al.   Frontiers in Bioscience-Landmark

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

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

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

(2010) Markus Riessland et al.   HUMAN MOLECULAR GENETICS

PTEN depletion rescues axonal growth defect and improves survival in SMN-deficient motor neurons

(2010) Ke Ning et al.   HUMAN MOLECULAR GENETICS

Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

(2010) Elisa Dominguez et al.   HUMAN MOLECULAR GENETICS

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model

(2010) Mélissa Bowerman et al.   HUMAN MOLECULAR GENETICS

Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design

(2010) F. D. Tiziano et al.   JOURNAL OF MEDICAL GENETICS

Exonic Sequences Provide Better Targets for Antisense Oligonucleotides Than Splice Site Sequences in the Modulation of Duchenne Muscular Dystrophy Splicing

(2010) Annemieke Aartsma-Rus et al.   OLIGONUCLEOTIDES

Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy

(2010) C. F. Valori et al.   Science Translational Medicine

Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA

(2009) Virginia B Mattis et al.   BMC NEUROSCIENCE

Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling

(2009) S Rudnik-Schöneborn et al.   CLINICAL GENETICS

Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model

(2009) Virginia B. Mattis et al.   HUMAN MOLECULAR GENETICS

Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo

(2009) Christopher R. Heier et al.   HUMAN MOLECULAR GENETICS

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

(2009) Matthew E.R. Butchbach 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

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

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

The SR protein family

(2009) Peter J Shepard et al.   GENOME BIOLOGY

DcpS as a Therapeutic Target for Spinal Muscular Atrophy

(2008) Jasbir Singh et al.   ACS Chemical 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

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

(2008) Alexa Dickson et al.   HUMAN GENE THERAPY

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

(2008) Shingo Kariya et al.   HUMAN MOLECULAR GENETICS

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET

Regulation of SMN Protein Stability

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

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

(2008) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

Daily salbutamol in young patients with SMA type II

(2008) Marika Pane et al.   NEUROMUSCULAR DISORDERS

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE