Spinal Muscular Atrophy and the Antiapoptotic Role of Survival of Motor Neuron (SMN) Protein

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

(2012) Francesco Lotti et al.   CELL

Co-regulation of survival of motor neuron and Bcl-xL expression: Implications for neuroprotection in spinal muscular atrophy

(2012) R.S. Anderton et al.   NEUROSCIENCE

Inhibition of Apoptosis Blocks Human Motor Neuron Cell Death in a Stem Cell Model of Spinal Muscular Atrophy

(2012) Dhruv Sareen et al.   PLoS One

Increased IGF-1 in muscle modulates the phenotype of severe SMA mice

(2011) Marta Bosch-Marcé 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

Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway

(2011) Faraz Farooq et al.   JOURNAL OF CLINICAL INVESTIGATION

The Survival of Motor Neuron (SMN) Protein Interacts with the mRNA-Binding Protein HuD and Regulates Localization of Poly(A) mRNA in Primary Motor Neuron Axons

(2011) C. Fallini et al.   JOURNAL OF NEUROSCIENCE

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

(2011) Sebahattin Cirak et al.   LANCET

A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy

(2011) M. Ruggiu et al.   MOLECULAR AND CELLULAR BIOLOGY

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

A screen for regulators of survival of motor neuron protein levels

(2011) Nina R Makhortova et al.   Nature Chemical Biology

A new model to study spinal muscular atrophy: Neurite degeneration and cell death is counteracted by BCL-XL Overexpression in motoneurons

(2011) Ana Garcera et al.   NEUROBIOLOGY OF DISEASE

IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice

(2011) Li-Kai Tsai et al.   NEUROBIOLOGY OF DISEASE

Survival of motor neuron protein over-expression prevents calpain-mediated cleavage and activation of procaspase-3 in differentiated human SH-SY5Y cells

(2011) R.S. Anderton et al.   NEUROSCIENCE

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

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

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

The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

(2010) Simona Pedrotti et al.   EMBO JOURNAL

Combination of SMN Trans-Splicing and a Neurotrophic Factor Increases the Life Span and Body Mass in a Severe Model of Spinal Muscular Atrophy

(2010) Monir Shababi et al.   HUMAN GENE THERAPY

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

(2010) Elisa Dominguez 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

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

Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy

(2010) T.- H. Chen et al.   NEUROLOGY

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

Molecular Determinants of Survival Motor Neuron (SMN) Protein Cleavage by the Calcium-Activated Protease, Calpain

(2010) Jennifer L. Fuentes et al.   PLoS One

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

(2009) Stefania Corti et al.   BRAIN

Erythropoietin exerts anti-epileptic effects with the suppression of aberrant new cell formation in the dentate gyrus and upregulation of neuropeptide Y in seizure model of rats

(2009) Akihiko Kondo et al.   BRAIN RESEARCH

RNA processing defects associated with diseases of the motor neuron

(2009) Stephen J. Kolb et al.   MUSCLE & NERVE

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

Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy

(2009) Isabella Palazzolo et al.   NEURON

Survival motor Neuron protein regulates apoptosis in anin vitro model of Spinal muscular atrophy

(2009) Graham C. Parker et al.   NEUROTOXICITY RESEARCH

Viral vectors for neurotrophic factor delivery: A gene therapy approach for neurodegenerative diseases of the CNS

(2009) Seung T. Lim et al.   PHARMACOLOGICAL RESEARCH

The Efficacy of Erythropoietin and Its Analogues in Animal Stroke Models

(2009) Jens Minnerup et al.   STROKE

Pathogenesis of proximal autosomal recessive spinal muscular atrophy

(2008) Goran Simic   ACTA NEUROPATHOLOGICA

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

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

Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy

(2008) Mohd Shamshudin Watihayati et al.   BRAIN & DEVELOPMENT

SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain

(2008) Michael P. Walker et al.   HUMAN MOLECULAR GENETICS

Regulation of SMN Protein Stability

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

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE

Restoring Bcl-xL levels benefits a mouse model of spinal muscular atrophy

(2008) Li-Kai Tsai et al.   NEUROBIOLOGY OF DISEASE

Subcutaneous IGF-1 is not beneficial in 2-year ALS trial

(2008) E. J. Sorenson et al.   NEUROLOGY

Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells

(2005) Susanna M. Grzeschik et al.   ANNALS OF NEUROLOGY