Published in Neurology on February 26, 2008
SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet (2005) 5.23
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol (2010) 4.62
Astrocytes from familial and sporadic ALS patients are toxic to motor neurons. Nat Biotechnol (2011) 3.45
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol (2003) 2.94
Dystrophin glycoprotein complex dysfunction: a regulatory link between muscular dystrophy and cancer cachexia. Cancer Cell (2005) 2.73
Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS One (2007) 2.70
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet (2008) 2.35
Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol (2003) 2.28
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med (2002) 2.26
Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders. Mol Ther (2011) 2.20
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet (2011) 2.13
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. J Neurosci (2006) 2.11
Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiol Dis (2007) 2.10
Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet (2010) 1.89
Embryonic motor axon development in the severe SMA mouse. Hum Mol Genet (2008) 1.79
A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. J Cell Biol (2003) 1.75
Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy. J Clin Invest (2004) 1.73
A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet (2009) 1.70
NF-κB-mediated Pax7 dysregulation in the muscle microenvironment promotes cancer cachexia. J Clin Invest (2013) 1.60
Increased expression of the glial glutamate transporter EAAT2 modulates excitotoxicity and delays the onset but not the outcome of ALS in mice. Hum Mol Genet (2003) 1.53
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet (2009) 1.46
Temporal requirement for high SMN expression in SMA mice. Hum Mol Genet (2011) 1.44
A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease. Dis Model Mech (2010) 1.36
Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing. Hum Mol Genet (2007) 1.33
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat (2007) 1.31
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet (2009) 1.31
A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells. Exp Cell Res (2005) 1.29
A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol Cell Biol (2011) 1.16
Translational control of glial glutamate transporter EAAT2 expression. J Biol Chem (2006) 1.14
Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy. J Med Chem (2008) 1.10
Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene. J Biol Chem (2004) 1.03
Spinal muscular atrophy: development and implementation of potential treatments. Ann Neurol (2013) 1.01
A novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophy. J Neurosci Methods (2006) 1.00
Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophy. PLoS One (2013) 1.00
Absence of gemin5 from SMN complexes in nuclear Cajal bodies. BMC Cell Biol (2007) 0.98
Antisense oligonucleotides for the treatment of spinal muscular atrophy. Hum Gene Ther (2013) 0.95
Human glioma cells and undifferentiated primary astrocytes that express aberrant EAAT2 mRNA inhibit normal EAAT2 protein expression and prevent cell death. Mol Cell Neurosci (2002) 0.94
The SMN binding protein Gemin2 is not involved in motor axon outgrowth. Dev Neurobiol (2008) 0.91
A large animal model of spinal muscular atrophy and correction of phenotype. Ann Neurol (2015) 0.90
Detection of human survival motor neuron (SMN) protein in mice containing the SMN2 transgene: applicability to preclinical therapy development for spinal muscular atrophy. J Neurosci Methods (2008) 0.87
SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice. Hum Mol Genet (2015) 0.77