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

scientific article published on October 2005

Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1101/GAD.342005
P932PMC publication ID1240041
P698PubMed publication ID16204184
P5875ResearchGate publication ID7561427

P50authorUtz FischerQ52680981
P2093author name stringGunter Meister
Christoph Winkler
Marieke Giegerich
Doris Wedlich
Dietmar Gradl
Bernhard Laggerbauer
Christian Eggert
P2860cites workA novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicingQ22008514
Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processingQ24323271
pICln inhibits snRNP biogenesis by binding core spliceosomal proteinsQ24517638
Symmetrical dimethylation of arginine residues in spliceosomal Sm protein B/B' and the Sm-like protein LSm4, and their interaction with the SMN protein.Q24540057
The methylosome, a 20S complex containing JBP1 and pICln, produces dimethylarginine-modified Sm proteinsQ24548244
Crystal structures of two Sm protein complexes and their implications for the assembly of the spliceosomal snRNPsQ27639794
Stages of embryonic development of the zebrafishQ27860947
Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteinsQ28143590
Spliceosomal UsnRNP biogenesis, structure and functionQ28188106
Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophyQ28200174
Methylation of Sm proteins by a complex containing PRMT5 and the putative U snRNP assembly factor pIClnQ28211723
The SMN complexQ28259557
Molecular characterization of a swelling-induced chloride conductance regulatory protein, pIClnQ28567396
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneuronsQ28576647
Identification and characterization of a spinal muscular atrophy-determining geneQ29547495
Pre-mRNA splicing and human diseaseQ29617335
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophyQ29617367
The molecular biology of axon guidanceQ29617857
Identification of survival motor neuron as a transcriptional activator-binding protein.Q33292104
Neuronal guidance. A genetic perspectiveQ33594307
Conservation and divergence of axon guidance mechanisms.Q33745357
Purification of the individual snRNPs U1, U2, U5 and U4/U6 from HeLa cells and characterization of their protein constituentsQ33881222
Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell deathQ34099265
Control of motor axon guidance in the zebrafish embryoQ34134037
Geminin deficiency causes a Chk1-dependent G2 arrest in XenopusQ34168520
Circadian rhythm and light regulate opsin mRNA in rod photoreceptorsQ34438287
Essential role for the SMN complex in the specificity of snRNP assemblyQ34529450
Translating axon guidance cues.Q34856370
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.Q35567371
Developmental regulation of zebrafish MyoD in wild-type, no tail and spadetail embryosQ38287447
A mouse model for spinal muscular atrophyQ38316939
Assisted RNP assembly: SMN and PRMT5 complexes cooperate in the formation of spliceosomal UsnRNPsQ39665747
Phosphorylation regulates the activity of the SMN complex during assembly of spliceosomal U snRNPs.Q40107820
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.Q40741164
Functional divergence of two zebrafish midkine growth factors following fish-specific gene duplicationQ40829871
Correlation between severity and SMN protein level in spinal muscular atrophyQ41102726
Dominant negative expression of a cytoplasmically deleted mutant of XB/U-cadherin disturbs mesoderm migration during gastrulation in Xenopus laevisQ41249065
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophyQ43569750
A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPsQ43803910
Motoneuron fate specification revealed by patterned LIM homeobox gene expression in embryonic zebrafish.Q48068850
Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization.Q48586550
PRMT5 (Janus Kinase-binding Protein 1) Catalyzes the Formation of Symmetric Dimethylarginine Residues in ProteinsQ56227906
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMNQ73295491
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophyQ73588971
Pathfinding by identified zebrafish motoneurons in the absence of muscle pioneersQ73745150
P433issue19
P921main subjectspinal muscular atrophyQ580290
Survival of motor neuron 1, telomericQ29827572
P304page(s)2320-2330
P577publication date2005-10-01
P1433published inGenes & DevelopmentQ1524533
P1476titleReduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy
P478volume19

Reverse relations

cites work (P2860)
Q36118011A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle.
Q24657021A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice
Q34964785A cell system for phenotypic screening of modifiers of SMN2 gene expression and function
Q34490238A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes
Q28586960A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy
Q39150934ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.
Q35114564ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.
Q104459050Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis
Q38118935Aberrant splicing in neurological diseases.
Q21144988Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy
Q35578535Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model
Q41856470An SMN-dependent U12 splicing event essential for motor circuit function
Q24311843An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs
Q29615723Animal models of human disease: zebrafish swim into view
Q37913270Biogenesis of spliceosomal small nuclear ribonucleoproteins
Q36777301Chaperoning ribonucleoprotein biogenesis in health and disease
Q41908770Characterization and in vivo functional analysis of the Schizosaccharomyces pombe ICLN gene
Q42242558Characterization of the angiogenic activity of zebrafish ribonucleases
Q28506113Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy
Q47073237Coilin-dependent snRNP assembly is essential for zebrafish embryogenesis
Q64912689Comprehensive Modeling of Spinal Muscular Atrophy in Drosophila melanogaster.
Q39751507Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy
Q36740997Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons.
Q34658141Depletion of SMN by RNA interference in HeLa cells induces defects in Cajal body formation.
Q37365336Developmental arrest of Drosophila survival motor neuron (Smn) mutants accounts for differences in expression of minor intron-containing genes
Q35707832Disease mechanisms and therapeutic approaches in spinal muscular atrophy
Q47070454Drosophila SMN complex proteins Gemin2, Gemin3, and Gemin5 are components of U bodies.
Q58826477Drug discovery for spinal muscular atrophy
Q30498123Dynamic control of Cajal body number during zebrafish embryogenesis
Q37294791Embryonic motor axon development in the severe SMA mouse
Q38039409Emerging Roles of Alternative Pre-mRNA Splicing Regulation in Neuronal Development and Function
Q34673242Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy
Q34342044GEMINs: potential therapeutic targets for spinal muscular atrophy?
Q38197233Gem depletion: amyotrophic lateral sclerosis and spinal muscular atrophy crossover.
Q24536283Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins.
Q37035061Gemin3 is an essential gene required for larval motor function and pupation in Drosophila
Q28115127Gemin5 Binds to the Survival Motor Neuron mRNA to Regulate SMN Expression
Q24306053Gemin8 is required for the architecture and function of the survival motor neuron complex
Q35670763Genetic Interactions between the Members of the SMN-Gemins Complex in Drosophila
Q39072801Genome-wide identification of mRNAs associated with the protein SMN whose depletion decreases their axonal localization
Q39418520Global detection and identification of developmental stage specific transcripts in mouse brain using subtractive cross-screening algorithm
Q38855284Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes
Q44501110Impaired spliceosomal UsnRNP assembly leads to Sm mRNA down-regulation and Sm protein degradation
Q36559321Implication of the SMN complex in the biogenesis and steady state level of the signal recognition particle
Q28116617In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein
Q42163950In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation
Q33355418Inactivation of the SMN complex by oxidative stress
Q37218543Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent
Q35758087Inhibition of U snRNP assembly by a virus-encoded proteinase
Q24608490Intronic miR-26b controls neuronal differentiation by repressing its host transcript, ctdsp2
Q39039061Linking amyotrophic lateral sclerosis and spinal muscular atrophy through RNA-transcriptome homeostasis: a genomics perspective
Q36924730Molecular functions of the SMN complex
Q36924727Molecular mechanisms of spinal muscular atrophy
Q83227267Multifaceted roles of microRNAs: From motor neuron generation in embryos to degeneration in spinal muscular atrophy
Q91594404Multiparametric rapid screening of neuronal process pathology for drug target identification in HSP patient-specific neurons
Q57924709Mutations in the Survival Motor Neuron (SMN) Protein Alter the Dynamic Nature of Nuclear Bodies
Q91678686Negative cooperativity between Gemin2 and RNA provides insights into RNA selection and the SMN complex's release in snRNP assembly
Q38222192Nervous translation, do you get the message? A review of mRNPs, mRNA-protein interactions and translational control within cells of the nervous system
Q51744183Neurochondrin interacts with the SMN protein suggesting a novel mechanism for Spinal Muscular Atrophy pathology.
Q39521045Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect
Q28261807Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts
Q24336921Ongoing U snRNP biogenesis is required for the integrity of Cajal bodies
Q33840295Proteomic assessment of a cell model of spinal muscular atrophy
Q34060813Quality control of assembly-defective U1 snRNAs by decapping and 5'-to-3' exonucleolytic digestion.
Q29615183RNA and disease
Q36827345RNA transport and localized protein synthesis in neurological disorders and neural repair
Q34993977RNA-Seq analysis in mutant zebrafish reveals role of U1C protein in alternative splicing regulation
Q37577398RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns
Q39233232Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy.
Q45973869Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy.
Q40089875Refined characterization of the expression and stability of the SMN gene products.
Q21142695Restoration of full-length SMN promoted by adenoviral vectors expressing RNA antisense oligonucleotides embedded in U7 snRNAs
Q33300324Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs
Q41864190RioK1, a new interactor of protein arginine methyltransferase 5 (PRMT5), competes with pICln for binding and modulates PRMT5 complex composition and substrate specificity.
Q42575278Role of pICLn in methylation of Sm proteins by PRMT5.
Q41835189SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila.
Q91854567SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1
Q38207417SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease.
Q35039158SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy
Q36746476SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
Q29013847SMN in spinal muscular atrophy and snRNP biogenesis
Q47885235SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities.
Q34056100SMN requirement for synaptic vesicle, active zone and microtubule postnatal organization in motor nerve terminals
Q37272307SMN-assisted assembly of snRNP-specific Sm cores in trypanosomes
Q36575678Sm protein methylation is dispensable for snRNP assembly in Drosophila melanogaster.
Q49389328Small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model of spinal muscular atrophy
Q81303651Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity
Q33914362Specific splicing defects in S. pombe carrying a degron allele of the Survival of Motor Neuron gene
Q39084725Spectrum of neuropathophysiology in spinal muscular atrophy type I
Q33775770Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction
Q37033848Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes
Q33345749Spinal muscular atrophy.
Q28302547Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence
Q38123249Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?
Q35990221Spinal muscular atrophy: the role of SMN in axonal mRNA regulation.
Q33785933Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Q37100836Splice-site pairing is an intrinsically high fidelity process.
Q37994369Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy
Q35563254Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: evidence for involvement of splicing regulatory proteins
Q34582131Splicing in disease: disruption of the splicing code and the decoding machinery
Q47073257Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.
Q21563387Survival motor neuron protein regulates stem cell division, proliferation, and differentiation in Drosophila
Q37875033Synaptic defects in spinal muscular atrophy animal models
Q36174725TIS7 induces transcriptional cascade of methylosome components required for muscle differentiation
Q30540382Temporal requirement for SMN in motoneuron development.
Q41120778The C-terminus of ICln is natively disordered but displays local structural preformation
Q35082654The Gemin associates of survival motor neuron are required for motor function in Drosophila
Q79828985The SMN binding protein Gemin2 is not involved in motor axon outgrowth
Q39802654The SMN protein is a key regulator of nuclear architecture in differentiating neuroblastoma cells.
Q24604444The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy
Q42439185The craniosacral progression of muscle development influences the emergence of neuromuscular junction alterations in a severe murine model for spinal muscular atrophy.
Q47073239The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal beta-actin mRNA translocation in spinal motor neurons
Q37774045The role of RNA processing in the pathogenesis of motor neuron degeneration.
Q64444095The role of survival motor neuron protein (SMN) in protein homeostasis
Q39770261The role of the ETS factor erg in zebrafish vasculogenesis
Q37935721The search for evolutionary developmental origins of aging in zebrafish: a novel intersection of developmental and senescence biology in the zebrafish model system
Q35910079The spliceosome assembly factor GEMIN2 attenuates the effects of temperature on alternative splicing and circadian rhythms.
Q36190026The survival motor neuron gene smn-1 interacts with the U2AF large subunit gene uaf-1 to regulate Caenorhabditis elegans lifespan and motor functions
Q24600623The survival motor neuron protein forms soluble glycine zipper oligomers
Q36428761Therapeutics development for spinal muscular atrophy
Q36974709Transcriptional enhancement of Smn levels in motoneurons is crucial for proper axon morphology in zebrafish
Q34142599Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells
Q28289793Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
Q24337867Two distinct arginine methyltransferases are required for biogenesis of Sm-class ribonucleoproteins
Q52328598U1 snRNP Alteration and Neuronal Cell Cycle Reentry in Alzheimer Disease.
Q37563561U1A regulates 3' processing of the survival motor neuron mRNA.
Q38030978Update on gene and stem cell therapy approaches for spinal muscular atrophy
Q38647597UsnRNP biogenesis: mechanisms and regulation
Q33647569Zebrafish as a genetic model in biological and behavioral gerontology: where development meets aging in vertebrates--a mini-review.
Q37831557Zebrafish as a model to understand autophagy and its role in neurological disease
Q34627477Zebrafish: an emerging model system for human disease and drug discovery.
Q38469185mRNA metabolism and neuronal disease

Search more.