Spinal Muscular Atrophy Therapeutics: Where do we Stand?

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

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

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

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

Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation

(2014) Shingo Kariya et al.   JOURNAL OF CLINICAL INVESTIGATION

A day in the life of the spliceosome

(2014) A. Gregory Matera et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

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

Dilysine motifs in exon 2b of SMN protein mediate binding to the COPI vesicle protein α-COP and neurite outgrowth in a cell culture model of spinal muscular atrophy

(2013) Sara K. Custer et al.   HUMAN MOLECULAR GENETICS

The DcpS inhibitor RG3039 improves motor function in SMA mice

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

The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models

(2013) Rocky G. Gogliotti et al.   HUMAN MOLECULAR GENETICS

Celecoxib increases SMN and survival in a severe spinal muscular atrophy mouse model via p38 pathway activation

(2013) Faraz Farooq et al.   HUMAN MOLECULAR GENETICS

Increasing SMN levels using the histone deacetylase inhibitor SAHA ameliorates defects in skeletal muscle microvasculature in a mouse model of severe spinal muscular atrophy

(2013) Eilidh Somers et al.   NEUROSCIENCE LETTERS

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

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy

(2013) Z. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function

(2012) Francesco Lotti et al.   CELL

Splice Modulating Therapies for Human Disease

(2012) Pietro Spitali et al.   CELL

Childhood spinal muscular atrophy: controversies and challenges

(2012) Eugenio Mercuri et al.   LANCET NEUROLOGY

Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of Spinal Muscular Atrophy

(2011) Jacqueline J. Glascock et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons

(2011) Young il Lee et al.   DEVELOPMENTAL BIOLOGY

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy

(2011) J. N. Sleigh et al.   Disease Models & Mechanisms

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

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

Temporal requirement for high SMN expression in SMA mice

(2011) T. T. Le 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

Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy

(2011) K. K. Y. Ling et al.   HUMAN MOLECULAR GENETICS

Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy

(2011) Cathleen M. Lutz et al.   JOURNAL OF CLINICAL INVESTIGATION

Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders

(2011) Adam K Bevan 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

Transgenic inactivation of murine myostatin does not decrease the severity of disease in a model of Spinal Muscular Atrophy

(2011) Hansjörg Rindt et al.   NEUROMUSCULAR DISORDERS

Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy

(2011) George Z. Mentis et al.   NEURON

SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy

(2011) John T. Kissel et al.   PLoS One

Newborn and carrier screening for spinal muscular atrophy

(2010) Thomas W. Prior et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SMN and the Gemin proteins form sub-complexes that localise to both stationary and dynamic neurite granules

(2010) Adrian G. Todd et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Riluzole pharmacokinetics in young patients with spinal muscular atrophy

(2010) Chadi Abbara et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

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

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

(2010) Marco A. Passini et al.   JOURNAL OF CLINICAL INVESTIGATION

Altered Intracellular Ca2+ Homeostasis in Nerve Terminals of Severe Spinal Muscular Atrophy Mice

(2010) R. Ruiz et al.   JOURNAL OF NEUROSCIENCE

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

(2010) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy

(2010) Kathryn J. Swoboda et al.   PLoS One

Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy

(2010) Karen K. Y. Ling et al.   PLoS One

Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice

(2009) Charlotte J. Sumner 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

LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate

(2009) Lutz Garbes 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

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

Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice

(2009) L. Kong et al.   JOURNAL OF NEUROSCIENCE

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

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

Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy

(2009) Dirk Bäumer et al.   PLoS Genetics

DcpS as a Therapeutic Target for Spinal Muscular Atrophy

(2008) Jasbir Singh et al.   ACS Chemical Biology

Pathogenesis of proximal autosomal recessive spinal muscular atrophy

(2008) Goran Simic   ACTA NEUROPATHOLOGICA

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

Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition

(2008) Heather L. Narver et al.   ANNALS OF NEUROLOGY

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

(2008) Zhenxi Zhang et al.   CELL

Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy

(2008) Ferrill F. Rose et al.   HUMAN MOLECULAR GENETICS

Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition

(2008) Jan Hauke et al.   HUMAN MOLECULAR GENETICS

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