SMN in spinal muscular atrophy and snRNP biogenesis (Q29013847)

Europe PubMed Central

title

SMN in spinal muscular atrophy and snRNP biogenesis (English)

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23 March 2017

main subject

spinal muscular atrophy

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Tristan H. Coady

1

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23 March 2017

Christian L. Lorson

series ordinal

2

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23 March 2017

publication date

17 February 2011

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Wiley interdisciplinary reviews. RNA

23 March 2017

published in

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23 March 2017

volume

2

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23 March 2017

issue

4

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23 March 2017

page(s)

546-564

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Identification and characterization of a spinal muscular atrophy-determining gene

23 March 2017

cites work

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Spinal muscular atrophy: from gene to therapy

21 January 2018

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The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation.

21 January 2018

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Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

21 January 2018

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The survival motor neuron protein in spinal muscular atrophy

21 January 2018

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The spinal muscular atrophy disease gene product, SMN: A link between snRNP biogenesis and the Cajal (coiled) body

21 January 2018

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Coiled bodies and gems: Janus or gemini?

21 January 2018

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Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN

21 January 2018

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Non-coding RNAs: lessons from the small nuclear and small nucleolar RNAs

21 January 2018

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The SMN complex, an assemblyosome of ribonucleoproteins

21 January 2018

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Chaperoning ribonucleoprotein biogenesis in health and disease

21 January 2018

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Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

21 January 2018

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Carrier testing for spinal muscular atrophy

21 January 2018

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Clinical trials in spinal muscular atrophy

21 January 2018

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21 January 2018

Spinal muscular atrophy

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Perspectives on clinical trials in spinal muscular atrophy

21 January 2018

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The changing natural history of spinal muscular atrophy type 1

21 January 2018

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Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

21 January 2018

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Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

21 January 2018

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The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

21 January 2018

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Expression study of survival motor neuron gene in human fetal tissues.

21 January 2018

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A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

21 January 2018

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A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

21 January 2018

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Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease

21 January 2018

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Spinal muscular atrophy: new and emerging insights from model mice

21 January 2018

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Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

21 January 2018

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SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.

21 January 2018

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Selection and characterization of pre-mRNA splicing enhancers: identification of novel SR protein-specific enhancer sequences

21 January 2018

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A mouse model for spinal muscular atrophy

21 January 2018

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Animal models of spinal muscular atrophy

21 January 2018

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The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

21 January 2018

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Regulation of SMN protein stability

21 January 2018

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Spinal muscular atrophy: molecular mechanisms

21 January 2018

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Is RNA manipulation a viable therapy for spinal muscular atrophy?

21 January 2018

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Spinal muscular atrophy: mechanisms and therapeutic strategies

21 January 2018

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Splicing of the Survival Motor Neuron genes and implications for treatment of SMA

21 January 2018

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Evolving concepts on human SMN pre-mRNA splicing.

21 January 2018

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Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

21 January 2018

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Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

21 January 2018

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A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype

21 January 2018

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Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron

21 January 2018

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In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes

21 January 2018

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Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector.

21 January 2018

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Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy

21 January 2018

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Development of a single vector system that enhances trans-splicing of SMN2 transcripts

21 January 2018

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Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy

21 January 2018

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Restoration of SMN function: delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing

21 January 2018

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A negatively acting bifunctional RNA increases survival motor neuron both in vitro and in vivo

21 January 2018

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Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

21 January 2018

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Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon

21 January 2018

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Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice

21 January 2018

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Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3' splice site pairing

21 January 2018

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Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs

21 January 2018

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Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

21 January 2018

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A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy

21 January 2018

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Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

21 January 2018

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Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy.

21 January 2018

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Restoration of full-length SMN promoted by adenoviral vectors expressing RNA antisense oligonucleotides embedded in U7 snRNAs

21 January 2018

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Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

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The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

21 January 2018

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The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

21 January 2018

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A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs

21 January 2018

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SMN-mediated assembly of RNPs: a complex story

21 January 2018

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Role of survival motor neuron complex components in small nuclear ribonucleoprotein assembly

21 January 2018

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SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.

21 January 2018

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Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly

21 January 2018

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Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems

21 January 2018

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Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli

21 January 2018

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Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins

21 January 2018

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Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component

21 January 2018

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Unrip is a component of SMN complexes active in snRNP assembly

21 January 2018

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Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

21 January 2018

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SMN, Gemin2 and Gemin3 associate with beta-actin mRNA in the cytoplasm of neuronal cells in vitro

21 January 2018

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Analysis of SMN-neurite granules: Core Cajal body components are absent from SMN-cytoplasmic complexes

21 January 2018

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SMN and the Gemin proteins form sub-complexes that localise to both stationary and dynamic neurite granules

21 January 2018

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Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons

21 January 2018

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Specific sequences of the Sm and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN).

21 January 2018

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Symmetrical dimethylation of arginine residues in spliceosomal Sm protein B/B' and the Sm-like protein LSm4, and their interaction with the SMN protein.

21 January 2018

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SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta

21 January 2018

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Interaction between the small-nuclear-RNA cap hypermethylase and the spinal muscular atrophy protein, survival of motor neuron

21 January 2018

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Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy

21 January 2018

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SMN interacts with a novel family of hnRNP and spliceosomal proteins

21 January 2018

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In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein

21 January 2018

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KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy.

21 January 2018

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Association of galectin-1 and galectin-3 with Gemin4 in complexes containing the SMN protein

21 January 2018

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A functional interaction between the survival motor neuron complex and RNA polymerase II

21 January 2018

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Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress

21 January 2018

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A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy

21 January 2018

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The exonuclease ISG20 mainly localizes in the nucleolus and the Cajal (Coiled) bodies and is associated with nuclear SMN protein-containing complexes

21 January 2018

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Survival motor neuron protein facilitates assembly of stress granules

21 January 2018

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Higher order arrangement of the eukaryotic nuclear bodies

21 January 2018

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Characterization of two evolutionarily conserved, alternatively spliced nuclear phosphoproteins, NFAR-1 and -2, that function in mRNA processing and interact with the double-stranded RNA-dependent protein kinase, PKR

21 January 2018

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Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein

21 January 2018

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Survival motor neuron (SMN) protein interacts with transcription corepressor mSin3A.

21 January 2018

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The Ewing's sarcoma protein interacts with the Tudor domain of the survival motor neuron protein

21 January 2018

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Identification of survival motor neuron as a transcriptional activator-binding protein.

21 January 2018

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Epstein-Barr virus nuclear antigen 2 binds via its methylated arginine-glycine repeat to the survival motor neuron protein.

21 January 2018

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Minute virus of mice small nonstructural protein NS2 interacts and colocalizes with the Smn protein

21 January 2018

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Minute virus of mice NS1 interacts with the SMN protein, and they colocalize in novel nuclear bodies induced by parvovirus infection

21 January 2018

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A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy.

21 January 2018

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Osteoclast-stimulating factor interacts with the spinal muscular atrophy gene product to stimulate osteoclast formation

21 January 2018

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Identifying specific protein interaction partners using quantitative mass spectrometry and bead proteomes

21 January 2018

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Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs

21 January 2018

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Differential intranuclear localization of fibroblast growth factor-2 isoforms and specific interaction with the survival of motoneuron protein

21 January 2018

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Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein

21 January 2018

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A human protein-protein interaction network: a resource for annotating the proteome

21 January 2018

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Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.

21 January 2018

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The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution.

21 January 2018

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The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding.

21 January 2018

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The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding

21 January 2018

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Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy

21 January 2018

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SMN tudor domain structure and its interaction with the Sm proteins

21 January 2018

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High-resolution X-ray and NMR structures of the SMN Tudor domain: conformational variation in the binding site for symmetrically dimethylated arginine residues

21 January 2018

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A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells.

21 January 2018

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Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?

21 January 2018

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Modulation of SMN nuclear foci and cytoplasmic localization by its C-terminus.

21 January 2018

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A SMNDelta7 read-through product confers functionality to the SMNDelta7 protein

21 January 2018

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Refined characterization of the expression and stability of the SMN gene products.

21 January 2018

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A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels

21 January 2018

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QNQKE targeting motif for the SMN-Gemin multiprotein complexin neurons.

21 January 2018

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SMN transcript stability: could modulation of messenger RNA degradation provide a novel therapy for spinal muscular atrophy?

21 January 2018

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A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

21 January 2018

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Spliceosomal UsnRNP biogenesis, structure and function

21 January 2018

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Monomethylated cap structures facilitate RNA export from the nucleus.

21 January 2018

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The HIV-1 Rev activation domain is a nuclear export signal that accesses an export pathway used by specific cellular RNAs

21 January 2018

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CRM1 is an export receptor for leucine-rich nuclear export signals

21 January 2018

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A cap-binding protein complex mediating U snRNA export

21 January 2018

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A nuclear cap binding protein complex involved in pre-mRNA splicing

21 January 2018

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Nuclear localization of a cap-binding protein complex.

21 January 2018

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Transport of proteins and RNAs in and out of the nucleus

21 January 2018

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PHAX, a mediator of U snRNA nuclear export whose activity is regulated by phosphorylation

21 January 2018

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Joining the dots: production, processing and targeting of U snRNP to nuclear bodies

21 January 2018

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Cloning of a complementary DNA encoding an 80 kilodalton nuclear cap binding protein

21 January 2018

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SMN, the product of the spinal muscular atrophy gene, binds preferentially to dimethylarginine-containing protein targets

21 January 2018

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Methylation of Sm proteins by a complex containing PRMT5 and the putative U snRNP assembly factor pICln

21 January 2018

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Assisted RNP assembly: SMN and PRMT5 complexes cooperate in the formation of spliceosomal UsnRNPs

21 January 2018

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An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs

21 January 2018

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Deciphering the assembly pathway of Sm-class U snRNPs

21 January 2018

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21 January 2018

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Essential role for the SMN complex in the specificity of snRNP assembly

21 January 2018

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Structure and assembly of the spliceosomal small nuclear ribonucleoprotein particles

21 January 2018

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Crystal structures of two Sm protein complexes and their implications for the assembly of the spliceosomal snRNPs

21 January 2018

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The Gemin6-Gemin7 heterodimer from the survival of motor neurons complex has an Sm protein-like structure

21 January 2018

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Structural studies of the spliceosome: blind men and an elephant

21 January 2018

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Gemin5-snRNA interaction reveals an RNA binding function for WD repeat domains

21 January 2018

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Gemin5 delivers snRNA precursors to the SMN complex for snRNP biogenesis

21 January 2018

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Hypermethylation of the cap structure of both yeast snRNAs and snoRNAs requires a conserved methyltransferase that is localized to the nucleolus

21 January 2018

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Nuclear import of U snRNPs requires importin beta

21 January 2018

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Protein import into nuclei: association and dissociation reactions involving transport substrate, transport factors, and nucleoporins

21 January 2018

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Pumping RNA: nuclear bodybuilding along the RNP pipeline.

21 January 2018

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Nuclear organization of pre-mRNA splicing factors.

21 January 2018

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Newly assembled snRNPs associate with coiled bodies before speckles, suggesting a nuclear snRNP maturation pathway

21 January 2018

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A role for Cajal bodies in the final steps of U2 snRNP biogenesis

21 January 2018

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RNAi knockdown of hPrp31 leads to an accumulation of U4/U6 di-snRNPs in Cajal bodies

21 January 2018

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Detection of snRNP assembly intermediates in Cajal bodies by fluorescence resonance energy transfer

21 January 2018

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Targeting of U4/U6 small nuclear RNP assembly factor SART3/p110 to Cajal bodies

21 January 2018

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Splicing double: insights from the second spliceosome

21 January 2018

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Splicing of a rare class of introns by the U12-dependent spliceosome

21 January 2018

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A novel U2 and U11/U12 snRNP protein that associates with the pre-mRNA branch site.

21 January 2018

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Conserved sequences in a class of rare eukaryotic nuclear introns with non-consensus splice sites

21 January 2018

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Terminal intron dinucleotide sequences do not distinguish between U2- and U12-dependent introns

21 January 2018

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Classification of introns: U2-type or U12-type

21 January 2018

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Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs

21 January 2018

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SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing

21 January 2018

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Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy

21 January 2018

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Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

21 January 2018

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Development of electrocardiogram intervals during growth of FVB/N neonate mice

21 January 2018

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Cardiac defects contribute to the pathology of spinal muscular atrophy models

21 January 2018

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SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy

21 January 2018

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AT-AC pre-mRNA splicing mechanisms and conservation of minor introns in voltage-gated ion channel genes

21 January 2018

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Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes

21 January 2018

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Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development.

21 January 2018

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Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

21 January 2018

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The survival motor neuron protein interacts with the transactivator FUSE binding protein from human fetal brain

21 January 2018

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Axonal defects in mouse models of motoneuron disease

21 January 2018

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ZBP2 facilitates binding of ZBP1 to beta-actin mRNA during transcription

21 January 2018

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Neurotrophin-induced transport of a beta-actin mRNP complex increases beta-actin levels and stimulates growth cone motility.

21 January 2018

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The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal beta-actin mRNA translocation in spinal motor neurons

21 January 2018

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Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects

21 January 2018

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Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

21 January 2018

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Embryonic motor axon development in the severe SMA mouse

21 January 2018

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Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

21 January 2018

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Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy

21 January 2018

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Fimbrin is a cytoskeletal protein that crosslinks F-actin in vitro

21 January 2018

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SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis.

21 January 2018

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Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model.

21 January 2018

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A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

21 January 2018

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Analysis of mutations in the tudor domain of the survival motor neuron protein SMN

21 January 2018

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The trimethylguanosine cap structure of U1 snRNA is a component of a bipartite nuclear targeting signal

21 January 2018

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The Relationship between SMN, the Spinal Muscular Atrophy Protein, and Nuclear Coiled Bodies in Differentiated Tissues and Cultured Cells

21 January 2018

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Definition of domain boundaries and crystallization of the SMN Tudor domain

21 January 2018

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