Published in BMC Neurol on February 01, 2006
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Refined characterization of the expression and stability of the SMN gene products. Am J Pathol (2007) 1.14
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SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. Eur J Hum Genet (2010) 1.02
Evaluation of peripheral blood mononuclear cell processing and analysis for Survival Motor Neuron protein. PLoS One (2012) 0.85
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Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR. Neuromuscul Disord (2017) 0.75
Enhanced expression of the central survival of motor neuron (SMN) protein during the pathogenesis of osteoarthritis. J Cell Mol Med (2013) 0.75
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The Y14 protein communicates to the cytoplasm the position of exon-exon junctions. EMBO J (2001) 2.37
Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol (2003) 2.28
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Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet (2001) 1.80
A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels. Hum Mol Genet (2005) 1.72
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
Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chem Biol (2004) 1.45
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet (2005) 1.38
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Ann Neurol (2005) 1.30
Concerns about the design of clinical trials for spinal muscular atrophy. Neuromuscul Disord (2004) 1.09
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Numerous microRNPs in neuronal cells containing novel microRNAs. RNA (2003) 6.28
Toxic proteins in neurodegenerative disease. Science (2002) 5.82
Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay. Genes Dev (2006) 5.59
Mutant dynactin in motor neuron disease. Nat Genet (2003) 5.28
RNA-binding proteins and post-transcriptional gene regulation. FEBS Lett (2008) 5.00
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell (2008) 4.54
Essential role for the SMN complex in the specificity of snRNP assembly. Science (2002) 4.42
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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet (2003) 3.55
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest (2007) 3.11
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Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci (2009) 2.71
Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol (2005) 2.34
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet (2009) 2.32
Translation is required to remove Y14 from mRNAs in the cytoplasm. Curr Biol (2002) 2.28
Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol (2003) 2.28
Ars2 links the nuclear cap-binding complex to RNA interference and cell proliferation. Cell (2009) 2.28
Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial. Lancet Neurol (2011) 2.27
Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy. Neuron (2009) 2.26
Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins. J Biol Chem (2001) 2.25
The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy. Mol Cell Biol (2005) 2.23
A novel WD repeat protein component of the methylosome binds Sm proteins. J Biol Chem (2001) 2.22
Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy. Neuron (2011) 2.19
tRNA binds to cytochrome c and inhibits caspase activation. Mol Cell (2010) 2.14
A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. J Cell Biol (2006) 2.08
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Regulation of SMN protein stability. Mol Cell Biol (2008) 2.02
Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition. Ann Neurol (2008) 2.01
The SMN complex. Exp Cell Res (2004) 1.96
eIF4A3 is a novel component of the exon junction complex. RNA (2004) 1.93
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci (2006) 1.87
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet (2008) 1.84
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Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component. J Biol Chem (2001) 1.73
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The Gemin6-Gemin7 heterodimer from the survival of motor neurons complex has an Sm protein-like structure. Structure (2005) 1.64
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain (2005) 1.63
Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex. J Biol Chem (2002) 1.60
The role of histone acetylation in SMN gene expression. Hum Mol Genet (2005) 1.56
Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Hum Mol Genet (2008) 1.56
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain (2010) 1.51
The Gemin5 protein of the SMN complex identifies snRNAs. Mol Cell (2006) 1.49
Sequence-specific interaction of U1 snRNA with the SMN complex. EMBO J (2002) 1.48
A simple whole cell lysate system for in vitro splicing reveals a stepwise assembly of the exon-exon junction complex. J Biol Chem (2003) 1.47
Molecular functions of the SMN complex. J Child Neurol (2007) 1.46
Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chem Biol (2004) 1.45
PYM binds the cytoplasmic exon-junction complex and ribosomes to enhance translation of spliced mRNAs. Nat Struct Mol Biol (2007) 1.45
Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy. J Neurosci (2012) 1.44
A candidate gene for autoimmune myasthenia gravis. Neurology (2012) 1.44
Structure of the Y14-Magoh core of the exon junction complex. Curr Biol (2003) 1.43
Gemins modulate the expression and activity of the SMN complex. Hum Mol Genet (2005) 1.42
Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor. Hum Mol Genet (2002) 1.41
Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity. Hum Mol Genet (2007) 1.40
GARS axonopathy: not every neuron's cup of tRNA. Trends Neurosci (2010) 1.40
The SMN complex is associated with snRNPs throughout their cytoplasmic assembly pathway. Mol Cell Biol (2002) 1.39
Vaccination with peptide mimetics of the gp41 prehairpin fusion intermediate yields neutralizing antisera against HIV-1 isolates. Proc Natl Acad Sci U S A (2010) 1.36
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy. Proc Natl Acad Sci U S A (2013) 1.35
Therapeutics development for triplet repeat expansion diseases. Nat Rev Genet (2005) 1.34
snRNAs contain specific SMN-binding domains that are essential for snRNP assembly. Mol Cell Biol (2004) 1.34
Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein. Genes Dev (2003) 1.33
Gemin5-snRNA interaction reveals an RNA binding function for WD repeat domains. Nat Struct Mol Biol (2009) 1.31
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am J Hum Genet (2012) 1.30
Detection of arginine dimethylated peptides by parallel precursor ion scanning mass spectrometry in positive ion mode. Anal Chem (2003) 1.29
Structure of a key intermediate of the SMN complex reveals Gemin2's crucial function in snRNP assembly. Cell (2011) 1.29
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Ann Neurol (2002) 1.29
A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity. Genes Dev (2010) 1.27
Gemin5 delivers snRNA precursors to the SMN complex for snRNP biogenesis. Mol Cell (2010) 1.27
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. PLoS Genet (2011) 1.25
Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Hum Mol Genet (2011) 1.24
The genetics of spinal muscular atrophies. Curr Opin Neurol (2010) 1.19
Rapid-response splicing reporter screens identify differential regulators of constitutive and alternative splicing. Mol Cell Biol (2010) 1.18
Mechanisms, models and biomarkers in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener (2013) 1.16
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat (2012) 1.15
Common data elements for clinical research in Friedreich's ataxia. Mov Disord (2012) 1.14
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. Neurology (2012) 1.14
Absence of heterogeneous nuclear ribonucleoproteins and survival motor neuron protein in TDP-43 positive inclusions in frontotemporal lobar degeneration. Acta Neuropathol (2007) 1.14
Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk. J Neurosci (2009) 1.10
A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor. Hum Mol Genet (2004) 1.10
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? Arch Neurol (2008) 1.10
Specific sequence features, recognized by the SMN complex, identify snRNAs and determine their fate as snRNPs. Mol Cell Biol (2005) 1.07
Severe neuropathy with leaky connexin32 hemichannels. Ann Neurol (2005) 1.07