Spinal muscular atrophy: mechanisms and therapeutic strategies

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

(2010) Markus Riessland et al.   HUMAN MOLECULAR GENETICS

Trans-Splicing-Mediated Improvement in a Severe Mouse Model of Spinal Muscular Atrophy

(2010) T. H. Coady et al.   JOURNAL OF NEUROSCIENCE

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

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

(2009) Virginia B Mattis et al.   BMC NEUROSCIENCE

Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice

(2009) Stefania Corti et al.   BRAIN

A Small-Molecule Inhibitor of Tgf-β Signaling Replaces Sox2 in Reprogramming by Inducing Nanog

(2009) Justin K. Ichida et al.   Cell Stem Cell

Generation of Human Induced Pluripotent Stem Cells by Direct Delivery of Reprogramming Proteins

(2009) Dohoon Kim et al.   Cell Stem Cell

Generation of Induced Pluripotent Stem Cells Using Recombinant Proteins

(2009) Hongyan Zhou et al.   Cell Stem Cell

Intron 7 conserved sequence elements regulate the splicing of the SMN genes

(2009) Jordan T. Gladman et al.   HUMAN 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

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

Motoneuron Transplantation Rescues the Phenotype of SMARD1 (Spinal Muscular Atrophy with Respiratory Distress Type 1)

(2009) S. Corti et al.   JOURNAL OF NEUROSCIENCE

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

Intravenous Administration of Self-complementary AAV9 Enables Transgene Delivery to Adult Motor Neurons

(2009) Sandra Duque et al.   MOLECULAR THERAPY

Virus-free induction of pluripotency and subsequent excision of reprogramming factors

(2009) Keisuke Kaji et al.   NATURE

piggyBac transposition reprograms fibroblasts to induced pluripotent stem cells

(2009) Knut Woltjen et al.   NATURE

Generation of transgene-free induced pluripotent mouse stem cells by the piggyBac transposon

(2009) Kosuke Yusa et al.   NATURE METHODS

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

Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy

(2009) Kathryn J. Swoboda et al.   PLoS One

Restoration of Full-Length SMN Promoted by Adenoviral Vectors Expressing RNA Antisense Oligonucleotides Embedded in U7 snRNAs

(2009) Till Geib et al.   PLoS One

Reprogramming of murine fibroblasts to induced pluripotent stem cells with chemical complementation of Klf4

(2009) C. A. Lyssiotis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiple roles of HDAC inhibition in neurodegenerative conditions

(2009) De-Maw Chuang et al.   TRENDS IN NEUROSCIENCES

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

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

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

Spinal muscular atrophy: Advances in research and consensus on care of patients

(2008) Ching H. Wang et al.   Current Treatment Options in Neurology

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

(2008) Alexa Dickson et al.   HUMAN GENE THERAPY

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

(2008) T. O. Gavrilina et al.   HUMAN MOLECULAR GENETICS

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

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

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

(2008) Kathrin Meyer et al.   HUMAN MOLECULAR GENETICS

Synthesis and Biological Evaluation of Novel 2,4-Diaminoquinazoline Derivatives asSMN2Promoter Activators for the Potential Treatment of Spinal Muscular Atrophy

(2008) John Thurmond et al.   JOURNAL OF MEDICINAL CHEMISTRY

Multiple therapeutic effects of valproic acid in spinal muscular atrophy model mice

(2008) Li-Kai Tsai et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

(2008) Eitan Kerem et al.   LANCET

The RNA Binding Protein hnRNP Q Modulates the Utilization of Exon 7 in the Survival Motor Neuron 2 (SMN2) Gene

(2008) H.-H. Chen et al.   MOLECULAR AND CELLULAR BIOLOGY

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

(2008) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

A SMNΔ7 read-through product confers functionality to the SMNΔ7 protein

(2008) Virginia B. Mattis et al.   NEUROSCIENCE LETTERS

Development of a Single Vector System that Enhances Trans-Splicing of SMN2 Transcripts

(2008) Tristan H. Coady et al.   PLoS One

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

(2008) G. E. Oprea et al.   SCIENCE

Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons

(2008) J. T. Dimos et al.   SCIENCE