Published in Front Biosci (Landmark Ed) on June 01, 2010
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet (2011) 2.13
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A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol Cell Biol (2011) 1.16
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Targeting SR proteins improves SMN expression in spinal muscular atrophy cells. PLoS One (2014) 0.83
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A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A (1999) 7.60
Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet (1997) 6.08
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet (2002) 5.80
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet (2000) 5.38
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
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet (1999) 5.09
The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet (1997) 4.86
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Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci (2009) 4.16
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet (2003) 3.84
Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat Struct Biol (2003) 3.75
Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am J Hum Genet (2008) 3.24
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest (2007) 3.11
Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc Natl Acad Sci U S A (2000) 2.72
Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci U S A (2003) 2.65
Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A (2001) 2.56
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Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet (2003) 2.51
Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron. Mol Cell Biol (2006) 2.41
Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biol (2007) 2.29
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet (2005) 2.29
Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol (2003) 2.28
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology (2006) 2.11
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Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition. Ann Neurol (2008) 2.01
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet (2004) 1.89
Differential SMN2 expression associated with SMA severity. Nat Genet (1998) 1.84
hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. Hum Mol Genet (2002) 1.84
Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes. Nucleic Acids Res (2006) 1.84
Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet (2001) 1.80
A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet (2009) 1.70
hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. Hum Mol Genet (2007) 1.69
Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One (2009) 1.67
Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy. J Neurosci (2009) 1.64
In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes. RNA (2004) 1.60
5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells. Ann Neurol (2008) 1.60
Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3' splice site pairing. J Biol Chem (2001) 1.56
An intronic element contributes to splicing repression in spinal muscular atrophy. Proc Natl Acad Sci U S A (2007) 1.55
Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy. Hum Mol Genet (2009) 1.53
SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1. Hum Mol Genet (2002) 1.53
Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy. Hum Mol Genet (2005) 1.52
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. Hum Mol Genet (1996) 1.52
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann Neurol (2006) 1.48
In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy. J Neurochem (2006) 1.48
A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy. RNA Biol (2009) 1.46
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Development of a single vector system that enhances trans-splicing of SMN2 transcripts. PLoS One (2008) 1.43
Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs. Mol Ther (2005) 1.42
Restoration of SMN function: delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing. Mol Ther (2007) 1.39
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet (2005) 1.38
Multiple therapeutic effects of valproic acid in spinal muscular atrophy model mice. J Mol Med (Berl) (2008) 1.38
An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA. Gene Ther (2001) 1.37
Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector. Mol Ther (2006) 1.37
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Identification of a cis-acting element for the regulation of SMN exon 7 splicing. J Biol Chem (2002) 1.33
Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation. Hum Mol Genet (2008) 1.33
Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy. Sci Transl Med (2009) 1.30
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Ann Neurol (2005) 1.30
An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA. J Biol Chem (2003) 1.28
The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells. Hum Genet (2006) 1.27
The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene. Mol Cell Biol (2008) 1.27
Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy. Neurology (2006) 1.26
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. Hum Mol Genet (2009) 1.21
Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence. Mol Ther (2007) 1.19
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. Hum Mutat (2005) 1.16
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells. J Med Genet (2007) 1.14
A negatively acting bifunctional RNA increases survival motor neuron both in vitro and in vivo. Hum Gene Ther (2008) 1.13
Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy. Biochem Biophys Res Commun (2009) 1.12
Pilot trial of phenylbutyrate in spinal muscular atrophy. Neuromuscul Disord (2004) 1.08
Induction of full-length survival motor neuron by polyphenol botanical compounds. Hum Genet (2007) 1.06
Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy. Neurobiol Dis (2010) 1.02
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Daily salbutamol in young patients with SMA type II. Neuromuscul Disord (2008) 1.00
Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP. RNA (2009) 0.99
Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis. Proc Natl Acad Sci U S A (2007) 0.99
Valproic acid treatment in six patients with spinal muscular atrophy. Eur J Neurol (2007) 0.99
Restoration of full-length SMN promoted by adenoviral vectors expressing RNA antisense oligonucleotides embedded in U7 snRNAs. PLoS One (2009) 0.98
The effect of hydroxyurea in spinal muscular atrophy cells and patients. J Neurol Sci (2007) 0.96
The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization. Neurogenetics (2000) 0.96
Stat5 constitutive activation rescues defects in spinal muscular atrophy. Hum Mol Genet (2007) 0.91
Intron 7 conserved sequence elements regulate the splicing of the SMN genes. Hum Genet (2009) 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
NF-kappaB-YY1-miR-29 regulatory circuitry in skeletal myogenesis and rhabdomyosarcoma. Cancer Cell (2008) 4.57
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Hum Mol Genet (2011) 1.03
miR-29 acts as a decoy in sarcomas to protect the tumor suppressor A20 mRNA from degradation by HuR. Sci Signal (2013) 1.02
MDM2 and MDM4 splicing: an integral part of the cancer spliceome. Front Biosci (Landmark Ed) (2009) 0.99
DEAR1 is a dominant regulator of acinar morphogenesis and an independent predictor of local recurrence-free survival in early-onset breast cancer. PLoS Med (2009) 0.99
Mouse models of SMA: tools for disease characterization and therapeutic development. Hum Genet (2012) 0.96
Conserved sequences in the final intron of MDM2 are essential for the regulation of alternative splicing of MDM2 in response to stress. Exp Cell Res (2009) 0.92
Intron 7 conserved sequence elements regulate the splicing of the SMN genes. Hum Genet (2009) 0.90
A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype. Hum Mol Genet (2010) 0.89
DEAR1 is a chromosome 1p35 tumor suppressor and master regulator of TGF-β-driven epithelial-mesenchymal transition. Cancer Discov (2013) 0.83
Stress-induced isoforms of MDM2 and MDM4 correlate with high-grade disease and an altered splicing network in pediatric rhabdomyosarcoma. Neoplasia (2013) 0.82
High frequency loss of heterozygosity in von Hippel-Lindau (VHL)-associated and sporadic pancreatic islet cell tumors: evidence for a stepwise mechanism for malignant conversion in VHL tumorigenesis. Cancer Res (2002) 0.82
Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model. Hum Mol Genet (2012) 0.77
Generation of a tamoxifen inducible SMN mouse for temporal SMN replacement. Genesis (2011) 0.75