Published in EMBO Rep on April 01, 2007
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci (2009) 4.16
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci (2009) 2.71
Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS One (2007) 2.70
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet (2011) 2.13
An SMN-dependent U12 splicing event essential for motor circuit function. Cell (2012) 1.94
Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo. Nucleic Acids Res (2009) 1.77
Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet (2009) 1.76
SMN is required for sensory-motor circuit function in Drosophila. Cell (2012) 1.68
The Cajal body and histone locus body. Cold Spring Harb Perspect Biol (2010) 1.60
Spinal muscular atrophy: a timely review. Arch Neurol (2011) 1.48
Temporal requirement for high SMN expression in SMA mice. Hum Mol Genet (2011) 1.44
Development of a single vector system that enhances trans-splicing of SMN2 transcripts. PLoS One (2008) 1.43
TDRD3, a novel Tudor domain-containing protein, localizes to cytoplasmic stress granules. Hum Mol Genet (2008) 1.36
The assembly of a spliceosomal small nuclear ribonucleoprotein particle. Nucleic Acids Res (2008) 1.34
Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy. J Neurosci (2010) 1.32
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet (2009) 1.31
Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy. Sci Transl Med (2009) 1.30
The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy. EMBO J (2010) 1.28
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. Am J Hum Genet (2008) 1.27
Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Hum Mol Genet (2011) 1.24
A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol Cell Biol (2011) 1.16
The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Dis Model Mech (2011) 1.15
Assays for the identification and prioritization of drug candidates for spinal muscular atrophy. Assay Drug Dev Technol (2014) 1.13
Dephosphorylation of survival motor neurons (SMN) by PPM1G/PP2Cgamma governs Cajal body localization and stability of the SMN complex. J Cell Biol (2007) 1.12
RioK1, a new interactor of protein arginine methyltransferase 5 (PRMT5), competes with pICln for binding and modulates PRMT5 complex composition and substrate specificity. J Biol Chem (2010) 1.12
SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease. Semin Cell Dev Biol (2014) 1.09
SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. Hum Mol Genet (2008) 1.07
Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation. J Clin Invest (2014) 1.06
Proteomic assessment of a cell model of spinal muscular atrophy. BMC Neurosci (2011) 1.05
The function of spliceosome components in open mitosis. Nucleus (2010) 1.01
Spinal muscular atrophy: development and implementation of potential treatments. Ann Neurol (2013) 1.01
RNA processing defects associated with diseases of the motor neuron. Muscle Nerve (2010) 0.99
SMN requirement for synaptic vesicle, active zone and microtubule postnatal organization in motor nerve terminals. PLoS One (2011) 0.97
Disease mechanisms and therapeutic approaches in spinal muscular atrophy. J Neurosci (2015) 0.92
The Wallerian degeneration slow (Wld(s)) gene does not attenuate disease in a mouse model of spinal muscular atrophy. Biochem Biophys Res Commun (2008) 0.92
SMN is essential for the biogenesis of U7 small nuclear ribonucleoprotein and 3'-end formation of histone mRNAs. Cell Rep (2013) 0.91
Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy. Brain Res (2012) 0.91
SMN-inducing compounds for the treatment of spinal muscular atrophy. Future Med Chem (2012) 0.90
Ubiquitin-specific protease 9x deubiquitinates and stabilizes the spinal muscular atrophy protein-survival motor neuron. J Biol Chem (2012) 0.88
IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of spinal muscular atrophy. Mol Med (2012) 0.88
SMN regulates axonal local translation via miR-183/mTOR pathway. Hum Mol Genet (2014) 0.87
Spinal Muscular Atrophy. Neurol Clin (2015) 0.86
Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpain. PLoS One (2010) 0.84
Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons. J Neurosci (2016) 0.83
Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases. Front Mol Biosci (2016) 0.83
A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA). Int J Mol Sci (2015) 0.81
A cell system for phenotypic screening of modifiers of SMN2 gene expression and function. PLoS One (2013) 0.80
Implication of the SMN complex in the biogenesis and steady state level of the signal recognition particle. Nucleic Acids Res (2012) 0.80
Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy. Hum Mol Genet (2016) 0.78
Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy. J Cell Sci (2012) 0.78
Identification of the phosphorylation sites in the survival motor neuron protein by protein kinase A. Biochim Biophys Acta (2011) 0.77
A novel functional role for MMSET in RNA processing based on the link between the REIIBP isoform and its interaction with the SMN complex. PLoS One (2014) 0.77
SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage. Proc Natl Acad Sci U S A (2017) 0.76
SECIS-binding protein 2 interacts with the SMN complex and the methylosome for selenoprotein mRNP assembly and translation. Nucleic Acids Res (2017) 0.75
A novel role for CARM1 in promoting nonsense-mediated mRNA decay: potential implications for spinal muscular atrophy. Nucleic Acids Res (2015) 0.75
The catalytically inactive tyrosine phosphatase HD-PTP/PTPN23 is a novel regulator of SMN complex localization. Mol Biol Cell (2014) 0.75
Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy. J Clin Neurol (2016) 0.75
Model systems of motor neuron diseases as a platform for studying pathogenic mechanisms and searching for therapeutic agents. Acta Naturae (2015) 0.75
RNA-binding proteins in neurodegeneration: mechanisms in aggregate. Genes Dev (2017) 0.75
miRNPs: a novel class of ribonucleoproteins containing numerous microRNAs. Genes Dev (2002) 19.24
Spliceosomal UsnRNP biogenesis, structure and function. Curr Opin Cell Biol (2001) 6.10
A novel nuclear structure containing the survival of motor neurons protein. EMBO J (1996) 4.72
Essential role for the SMN complex in the specificity of snRNP assembly. Science (2002) 4.42
SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet (1998) 3.51
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J Cell Biol (2003) 3.40
A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs. Nat Cell Biol (2001) 3.39
The SMN complex, an assemblyosome of ribonucleoproteins. Curr Opin Cell Biol (2002) 2.88
Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease. Neuron (2005) 2.73
SMN-mediated assembly of RNPs: a complex story. Trends Cell Biol (2002) 2.37
The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy. Mol Cell Biol (2005) 2.23
Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy. Genes Dev (2005) 2.22
SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins. Proc Natl Acad Sci U S A (1999) 2.18
The spinal muscular atrophy disease gene product, SMN: A link between snRNP biogenesis and the Cajal (coiled) body. J Cell Biol (1999) 2.17
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. J Neurosci (2006) 2.11
Spliceosomal U snRNP core assembly: Sm proteins assemble onto an Sm site RNA nonanucleotide in a specific and thermodynamically stable manner. Mol Cell Biol (1999) 2.10
Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing. Genes Dev (2003) 2.10
Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy. Hum Mol Genet (1999) 2.07
Assisted RNP assembly: SMN and PRMT5 complexes cooperate in the formation of spliceosomal UsnRNPs. EMBO J (2002) 2.04
Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins. Proc Natl Acad Sci U S A (2005) 2.00
Coilin methylation regulates nuclear body formation. Dev Cell (2002) 1.91
Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons. J Neurosci (2006) 1.80
The Sm-protein methyltransferase, dart5, is essential for germ-cell specification and maintenance. Curr Biol (2006) 1.78
Coupled in vitro import of U snRNPs and SMN, the spinal muscular atrophy protein. Mol Cell (2004) 1.66
The Gemin6-Gemin7 heterodimer from the survival of motor neurons complex has an Sm protein-like structure. Structure (2005) 1.64
The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation. Hum Mol Genet (2005) 1.61
A comprehensive interaction map of the human survival of motor neuron (SMN) complex. J Biol Chem (2006) 1.61
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
Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN. Exp Cell Res (2001) 1.43
Gemins modulate the expression and activity of the SMN complex. Hum Mol Genet (2005) 1.42
Interaction between the small-nuclear-RNA cap hypermethylase and the spinal muscular atrophy protein, survival of motor neuron. EMBO Rep (2003) 1.35
snRNAs contain specific SMN-binding domains that are essential for snRNP assembly. Mol Cell Biol (2004) 1.34
Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly. J Biol Chem (2006) 1.34
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
Unrip is a component of SMN complexes active in snRNP assembly. FEBS Lett (2005) 1.28
Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization. Hum Mol Genet (2005) 1.20
Gemin8 is required for the architecture and function of the survival motor neuron complex. J Biol Chem (2006) 1.10
Specific sequence features, recognized by the SMN complex, identify snRNAs and determine their fate as snRNPs. Mol Cell Biol (2005) 1.07
Lymphotropic Herpesvirus saimiri uses the SMN complex to assemble Sm cores on its small RNAs. Mol Cell Biol (2005) 0.94
Neuronal-specific roles of the survival motor neuron protein: evidence from survival motor neuron expression patterns in the developing human central nervous system. J Neuropathol Exp Neurol (2006) 0.85