Targeting RNA-splicing for SMA treatment.

PubWeight™: 0.91‹?›

🔗 View Article (PMC 3887702)

Published in Mol Cells on February 28, 2012

Authors

Jianhua Zhou1, Xuexiu Zheng, Haihong Shen

Author Affiliations

1: Department of Neuroregeneration, Nantong University, JiangSu, P. R. China.

Articles cited by this

Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 17.41

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

The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell (1997) 5.57

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

The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet (1997) 4.86

A novel nuclear structure containing the survival of motor neurons protein. EMBO J (1996) 4.72

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc Natl Acad Sci U S A (1997) 4.70

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol (2010) 4.62

Essential role for the SMN complex in the specificity of snRNP assembly. Science (2002) 4.42

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature (2011) 4.04

Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat Struct Biol (2003) 3.75

Sorting of beta-actin mRNA and protein to neurites and growth cones in culture. J Neurosci (1998) 3.45

Classification of spinal muscular atrophies. Lancet (1980) 3.40

A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs. Nat Cell Biol (2001) 3.39

Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am J Hum Genet (2008) 3.24

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev (2010) 3.02

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol (2003) 2.94

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

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat (2000) 2.71

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

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. J Clin Invest (2010) 2.62

Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Sci Transl Med (2011) 2.56

Activity-dependent trafficking and dynamic localization of zipcode binding protein 1 and beta-actin mRNA in dendrites and spines of hippocampal neurons. J Neurosci (2003) 2.34

Spliceosome-mediated RNA trans-splicing as a tool for gene therapy. Nat Biotechnol (1999) 2.32

Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biol (2007) 2.29

Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. J Neurosci (2003) 2.28

Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum Mol Genet (2010) 2.26

The spinal muscular atrophy disease gene product, SMN: A link between snRNP biogenesis and the Cajal (coiled) body. J Cell Biol (1999) 2.17

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet (2011) 2.13

Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy. Hum Mol Genet (1999) 2.07

Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy. Hum Gene Ther (2010) 1.93

Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet (2010) 1.89

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet (2004) 1.89

Survival motor neuron protein facilitates assembly of stress granules. FEBS Lett (2004) 1.86

Neuromuscular defects in a Drosophila survival motor neuron gene mutant. Hum Mol Genet (2003) 1.85

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet (2001) 1.80

Spinal muscular atrophy: mechanisms and therapeutic strategies. Hum Mol Genet (2010) 1.73

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

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

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

Reprogramming alternative pre-messenger RNA splicing through the use of protein-binding antisense oligonucleotides. J Biol Chem (2003) 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

Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chem Biol (2004) 1.45

Development of a single vector system that enhances trans-splicing of SMN2 transcripts. PLoS One (2008) 1.43

The SMN complex is associated with snRNPs throughout their cytoplasmic assembly pathway. Mol Cell Biol (2002) 1.39

Restoration of SMN function: delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing. Mol Ther (2007) 1.39

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

Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord. Hum Mol Genet (2000) 1.35

Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy. J Neurosci (2010) 1.32

Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Ann Neurol (2005) 1.30

Molecular mechanisms of gene expression regulation by the apoptosis-promoting protein TIA-1. Apoptosis (2001) 1.27

Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy. Neurology (2006) 1.26

Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity? Ann Neurol (1997) 1.23

Evolving concepts on human SMN pre-mRNA splicing. RNA Biol (2007) 1.18

TIA-1 or TIAR is required for DT40 cell viability. J Biol Chem (2003) 1.16

Molecular biology. A place to die, a place to sleep. Science (2003) 1.15

The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1. Hum Mol Genet (2000) 1.13

A negatively acting bifunctional RNA increases survival motor neuron both in vitro and in vivo. Hum Gene Ther (2008) 1.13

The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability. Hum Mol Genet (1999) 1.12

Reprogramming of tau alternative splicing by spliceosome-mediated RNA trans-splicing: implications for tauopathies. Proc Natl Acad Sci U S A (2005) 1.10

The regulation and regulatory activities of alternative splicing of the SMN gene. Crit Rev Eukaryot Gene Expr (2004) 1.08

Bifunctional RNAs targeting the intronic splicing silencer N1 increase SMN levels and reduce disease severity in an animal model of spinal muscular atrophy. Mol Ther (2011) 1.07

The survival motor neuron protein of Schizosacharomyces pombe. Conservation of survival motor neuron interaction domains in divergent organisms. J Biol Chem (2000) 1.07

Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila. FEBS Lett (2000) 1.00

Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein. Hum Mol Genet (2000) 1.00

The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution. Hum Mol Genet (1999) 0.96

Spinal muscular atrophy: recent advances and future prospects. Muscle Nerve (2002) 0.96

Decreasing disease severity in symptomatic, Smn(-/-);SMN2(+/+), spinal muscular atrophy mice following scAAV9-SMN delivery. Hum Gene Ther (2012) 0.92

RNA and protein-dependent mechanisms in tauopathies: consequences for therapeutic strategies. Cell Mol Life Sci (2007) 0.92

Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines. Brain Dev (2011) 0.91

Redistribution of syntaxin mRNA in neuronal cell bodies regulates protein expression and transport during synapse formation and long-term synaptic plasticity. J Neurosci (2003) 0.89

Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress. Biochem Biophys Res Commun (2004) 0.88

Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for Spinal Muscular Atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing. Neuromuscul Disord (2010) 0.86

Optimization of SMN trans-splicing through the analysis of SMN introns. J Mol Neurosci (2011) 0.81

Is RNA manipulation a viable therapy for spinal muscular atrophy? J Neurol Sci (2009) 0.76

Articles by these authors

Cell motility is controlled by SF2/ASF through alternative splicing of the Ron protooncogene. Mol Cell (2005) 2.85

Structural basis for polypyrimidine tract recognition by the essential pre-mRNA splicing factor U2AF65. Mol Cell (2006) 1.83

The U2AF35-related protein Urp contacts the 3' splice site to promote U12-type intron splicing and the second step of U2-type intron splicing. Genes Dev (2010) 1.26

Distinct activities of the DExD/H-box splicing factor hUAP56 facilitate stepwise assembly of the spliceosome. Genes Dev (2008) 1.25

RNAi-based analysis of CAP, Cbl, and CrkII function in the regulation of GLUT4 by insulin. J Biol Chem (2004) 1.09

Solution conformation and thermodynamic characteristics of RNA binding by the splicing factor U2AF65. J Biol Chem (2008) 1.03

A rapid and high content assay that measures cyto-ID-stained autophagic compartments and estimates autophagy flux with potential clinical applications. Autophagy (2015) 1.00

Novel use of fluorescent glucose analogues to identify a new class of triazine-based insulin mimetics possessing useful secondary effects. Mol Biosyst (2010) 0.98

Irf3 polymorphism alters induction of interferon beta in response to Listeria monocytogenes infection. PLoS Genet (2007) 0.90

Chimeric RNAs as potential biomarkers for tumor diagnosis. BMB Rep (2012) 0.88

Differential physiological roles of ESCRT complexes in Caenorhabditis elegans. Mol Cells (2011) 0.87

Validation of trans-acting elements that promote exon 7 skipping of SMN2 in SMN2-GFP stable cell line. Biochem Biophys Res Commun (2012) 0.86

Identification of a novel cis-element that regulates alternative splicing of Bcl-x pre-mRNA. Biochem Biophys Res Commun (2012) 0.85

Stepwise walking and cross-linking of RNA with elongating T7 RNA polymerase. Methods Enzymol (2003) 0.85

Delineation of the role of glycosylation in the cytotoxic properties of quercetin using novel assays in living vertebrates. J Nat Prod (2014) 0.84

SC35 promotes splicing of the C5-V6-C6 isoform of CD44 pre-mRNA. Oncol Rep (2013) 0.80

hnRNP A1 contacts exon 5 to promote exon 6 inclusion of apoptotic Fas gene. Apoptosis (2013) 0.80

Disruption of endocytic pathway regulatory genes activates autophagy in C. elegans. Mol Cells (2011) 0.78

Polypyrimidine tract binding protein inhibits IgM pre-mRNA splicing by diverting U2 snRNA base-pairing away from the branch point. RNA (2014) 0.78

Isoforms of wild type proteins often appear as low molecular weight bands on SDS-PAGE. Biotechnol J (2014) 0.77

Predominant expression of exon 7 skipped SMN mRNAs in lung based on analysis of transcriptome sequencing datasets. Neurol Sci (2013) 0.76

Apoptosis in Living Animals Is Assisted by Scavenger Cells and Thus May Not Mainly Go through the Cytochrome C-Caspase Pathway. J Cancer (2013) 0.76

A 2-nt RNA enhancer on exon 11 promotes exon 11 inclusion of the Ron proto-oncogene. Oncol Rep (2013) 0.75

5-Nitro-5'hydroxy-indirubin-3'oxime is a novel inducer of somatic cell transdifferentiation. Arch Pharm (Weinheim) (2014) 0.75

Identification of novel splicing variants from RON proto-oncogene pre-mRNA. Oncol Rep (2012) 0.75