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Search results 1 to 100 out of 705 for Smn1

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Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Danio rerio
Gene
Type: gene
Organism: Rattus norvegicus
Protein Domain
Type: Family
Description: A survival motor neuron (SMN) orthologue has been identified and characterized in Schizosaccharomyces pombe [, ]. As its mammalian counterpart, Smn plays a crucial role in the generation of the pre-mRNA splicing machinery and in mRNA biogenesis by interacting with spliceosomal snRNPs [, ]. Interestingly, Smn is not present in Saccharomyces cerevisiae. Orthologues of this gene in fungi seem to be present predominately in filamentous fungi [].
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Publication
First Author: Owen N
Year: 2000
Journal: Hum Mol Genet
Title: Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein.
Volume: 9
Issue: 5
Pages: 675-84
Publication      
First Author: Murphy A (Regeneron Pharmaceuticals, Inc.)
Year: 2008
Journal: Personal Communication
Title: Smn1 hybrid rescue allele, COIN (conditional inversion)
Publication      
First Author: Murphy A (Regeneron Pharmaceuticals, Inc.)
Year: 2008
Journal: Personal Communication
Title: Smn1 deletion with lacZ knock in.
Publication
First Author: Kim EK
Year: 2017
Journal: Biochim Biophys Acta
Title: SMN1 functions as a novel inhibitor for TRAF6-mediated NF-κB signaling.
Volume: 1864
Issue: 5
Pages: 760-770
Publication
First Author: Paushkin S
Year: 2000
Journal: J Biol Chem
Title: The survival motor neuron protein of Schizosacharomyces pombe. Conservation of survival motor neuron interaction domains in divergent organisms.
Volume: 275
Issue: 31
Pages: 23841-6
Publication
First Author: Mier P
Year: 2012
Journal: Gene
Title: Fungal Smn and Spf30 homologues are mainly present in filamentous fungi and genomes with many introns: implications for spinal muscular atrophy.
Volume: 491
Issue: 2
Pages: 135-41
Publication
First Author: Campion Y
Year: 2010
Journal: EMBO J
Title: Specific splicing defects in S. pombe carrying a degron allele of the Survival of Motor Neuron gene.
Volume: 29
Issue: 11
Pages: 1817-29
Publication
First Author: Dominguez E
Year: 2011
Journal: Hum Mol Genet
Title: Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice.
Volume: 20
Issue: 4
Pages: 681-93
Publication  
First Author: Fulceri F
Year: 2012
Journal: Brain Res
Title: Motor neuron pathology and behavioral alterations at late stages in a SMA mouse model.
Volume: 1442
Pages: 66-75
Publication
First Author: Osborne M
Year: 2012
Journal: Hum Mol Genet
Title: Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models.
Volume: 21
Issue: 20
Pages: 4431-47
Publication
First Author: McGovern VL
Year: 2021
Journal: Hum Mol Genet
Title: Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice.
Volume: 29
Issue: 21
Pages: 3493-3503
Publication
First Author: Monani UR
Year: 2003
Journal: J Cell Biol
Title: A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.
Volume: 160
Issue: 1
Pages: 41-52
Publication
First Author: Carissimi C
Year: 2006
Journal: J Biol Chem
Title: Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly.
Volume: 281
Issue: 12
Pages: 8126-34
Publication
First Author: Iyer CC
Year: 2015
Journal: Hum Mol Genet
Title: Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA.
Volume: 24
Issue: 21
Pages: 6160-73
Publication
First Author: Rindt H
Year: 2015
Journal: Hum Mol Genet
Title: Astrocytes influence the severity of spinal muscular atrophy.
Volume: 24
Issue: 14
Pages: 4094-102
Publication
First Author: Gavrilina TO
Year: 2008
Journal: Hum Mol Genet
Title: Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect.
Volume: 17
Issue: 8
Pages: 1063-75
Publication
First Author: Workman E
Year: 2009
Journal: Hum Mol Genet
Title: A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.
Volume: 18
Issue: 12
Pages: 2215-29
Publication
First Author: Simon CM
Year: 2019
Journal: Cell Rep
Title: Stasimon Contributes to the Loss of Sensory Synapses and Motor Neuron Death in a Mouse Model of Spinal Muscular Atrophy.
Volume: 29
Issue: 12
Pages: 3885-3901.e5
Publication
First Author: Paez-Colasante X
Year: 2013
Journal: PLoS One
Title: Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons.
Volume: 8
Issue: 9
Pages: e75866
Publication
First Author: Lee AJ
Year: 2012
Journal: PLoS One
Title: Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy.
Volume: 7
Issue: 9
Pages: e46353
Publication
First Author: Taylor AS
Year: 2013
Journal: Transgenic Res
Title: Restoration of SMN to Emx-1 expressing cortical neurons is not sufficient to provide benefit to a severe mouse model of Spinal Muscular Atrophy.
Volume: 22
Issue: 5
Pages: 1029-36
Publication
First Author: Howell MD
Year: 2017
Journal: Sci Rep
Title: TIA1 is a gender-specific disease modifier of a mild mouse model of spinal muscular atrophy.
Volume: 7
Issue: 1
Pages: 7183
Publication
First Author: Simon CM
Year: 2017
Journal: Cell Rep
Title: Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy.
Volume: 21
Issue: 13
Pages: 3767-3780
Publication
First Author: Bricceno KV
Year: 2014
Journal: Hum Mol Genet
Title: Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics.
Volume: 23
Issue: 18
Pages: 4745-57
Publication
First Author: Vukojicic A
Year: 2019
Journal: Cell Rep
Title: The Classical Complement Pathway Mediates Microglia-Dependent Remodeling of Spinal Motor Circuits during Development and in SMA.
Volume: 29
Issue: 10
Pages: 3087-3100.e7
Publication
First Author: Fletcher EV
Year: 2017
Journal: Nat Neurosci
Title: Reduced sensory synaptic excitation impairs motor neuron function via Kv2.1 in spinal muscular atrophy.
Volume: 20
Issue: 7
Pages: 905-916
Publication
First Author: Lutz CM
Year: 2011
Journal: J Clin Invest
Title: Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy.
Volume: 121
Issue: 8
Pages: 3029-41
Publication
First Author: Martinez TL
Year: 2012
Journal: J Neurosci
Title: Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy.
Volume: 32
Issue: 25
Pages: 8703-15
Publication
First Author: Iyer CC
Year: 2018
Journal: Hum Mol Genet
Title: Mild SMN missense alleles are only functional in the presence of SMN2 in mammals.
Volume: 27
Issue: 19
Pages: 3404-3416
Publication      
First Author: Murphy A (Regeneron Pharmaceuticals Inc)
Year: 2008
Journal: Personal Communication
Title: Smn allele B.
Publication
First Author: McGovern VL
Year: 2015
Journal: Hum Mol Genet
Title: SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA.
Volume: 24
Issue: 19
Pages: 5524-41
Publication  
First Author: Kong L
Year: 2021
Journal: Sci Transl Med
Title: Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA.
Volume: 13
Issue: 578
Publication
First Author: Pagliarini V
Year: 2015
Journal: J Cell Biol
Title: SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy.
Volume: 211
Issue: 1
Pages: 77-90
Publication
First Author: Bowerman M
Year: 2012
Journal: Neuromuscul Disord
Title: A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology.
Volume: 22
Issue: 3
Pages: 263-76
Publication
First Author: Hsieh-Li HM
Year: 2000
Journal: Nat Genet
Title: A mouse model for spinal muscular atrophy.
Volume: 24
Issue: 1
Pages: 66-70
Publication  
First Author: Custer SK
Year: 2014
Journal: Mol Cell Neurosci
Title: Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy.
Volume: 61
Pages: 133-40
Publication
First Author: Young PJ
Year: 2002
Journal: J Biol Chem
Title: A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy.
Volume: 277
Issue: 4
Pages: 2852-9
Publication
First Author: Kwon JE
Year: 2011
Journal: FEBS Lett
Title: Stabilization of the survival motor neuron protein by ASK1.
Volume: 585
Issue: 9
Pages: 1287-92
Publication      
First Author: Murphy A (Regeneron Pharmaceuticals, Inc.)
Year: 2008
Journal: Personal Communication
Title: Smn allele C.
Publication
First Author: Li J
Year: 2014
Journal: PLoS One
Title: A comparison of three electrophysiological methods for the assessment of disease status in a mild spinal muscular atrophy mouse model.
Volume: 9
Issue: 10
Pages: e111428
Publication
First Author: Naryshkin NA
Year: 2014
Journal: Science
Title: Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.
Volume: 345
Issue: 6197
Pages: 688-93
Publication
First Author: Liu M
Year: 2016
Journal: PLoS One
Title: Activin Receptor Type IIB Inhibition Improves Muscle Phenotype and Function in a Mouse Model of Spinal Muscular Atrophy.
Volume: 11
Issue: 11
Pages: e0166803
Publication
First Author: Scharf JM
Year: 1998
Journal: Nat Genet
Title: Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics.
Volume: 20
Issue: 1
Pages: 83-6
Publication
First Author: Seo J
Year: 2016
Journal: PLoS One
Title: Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene.
Volume: 11
Issue: 4
Pages: e0154390
Publication
First Author: Chen HH
Year: 2008
Journal: Mol Cell Biol
Title: The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene.
Volume: 28
Issue: 22
Pages: 6929-38
Publication
First Author: Bowerman M
Year: 2014
Journal: Hum Mol Genet
Title: Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology.
Volume: 23
Issue: 13
Pages: 3432-44
Publication
First Author: Groen EJN
Year: 2018
Journal: Hum Mol Genet
Title: Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy.
Volume: 27
Issue: 16
Pages: 2851-2862
Publication
First Author: Mende Y
Year: 2010
Journal: Hum Mol Genet
Title: Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing.
Volume: 19
Issue: 11
Pages: 2154-67
Publication
First Author: Monani UR
Year: 2000
Journal: Hum Mol Genet
Title: The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.
Volume: 9
Issue: 3
Pages: 333-9
Publication
First Author: Farooq F
Year: 2013
Journal: Hum Mol Genet
Title: Celecoxib increases SMN and survival in a severe spinal muscular atrophy mouse model via p38 pathway activation.
Volume: 22
Issue: 17
Pages: 3415-24
Publication
First Author: Turner BJ
Year: 2009
Journal: Neurobiol Dis
Title: Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model.
Volume: 34
Issue: 3
Pages: 511-7
Publication
First Author: Osman EY
Year: 2019
Journal: Sci Rep
Title: Intraperitoneal delivery of a novel drug-like compound improves disease severity in severe and intermediate mouse models of Spinal Muscular Atrophy.
Volume: 9
Issue: 1
Pages: 1633
Publication
First Author: Bebee TW
Year: 2012
Journal: Hum Mol Genet
Title: Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model.
Volume: 21
Issue: 19
Pages: 4301-13
Publication
First Author: Luchetti A
Year: 2015
Journal: Int J Mol Sci
Title: A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA).
Volume: 16
Issue: 8
Pages: 18312-27
Publication
First Author: Tejero R
Year: 2016
Journal: Hum Mol Genet
Title: Synaptotagmin-2, and -1, linked to neurotransmission impairment and vulnerability in Spinal Muscular Atrophy.
Volume: 25
Issue: 21
Pages: 4703-4716
Publication
First Author: Porensky PN
Year: 2012
Journal: Hum Mol Genet
Title: A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse.
Volume: 21
Issue: 7
Pages: 1625-38
Publication
First Author: Gladman JT
Year: 2010
Journal: Hum Mol Genet
Title: A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.
Volume: 19
Issue: 21
Pages: 4239-52
Publication
First Author: Ohuchi K
Year: 2019
Journal: Sci Rep
Title: Notch Signaling Mediates Astrocyte Abnormality in Spinal Muscular Atrophy Model Systems.
Volume: 9
Issue: 1
Pages: 3701
Publication
First Author: Sleigh JN
Year: 2011
Journal: Dis Model Mech
Title: The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy.
Volume: 4
Issue: 4
Pages: 457-67
Publication
First Author: Gogliotti RG
Year: 2013
Journal: Hum Mol Genet
Title: The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models.
Volume: 22
Issue: 20
Pages: 4084-101
Publication
First Author: Farooq F
Year: 2011
Journal: J Clin Invest
Title: Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway.
Volume: 121
Issue: 8
Pages: 3042-50
Publication
First Author: Voigt T
Year: 2010
Journal: Neuromuscul Disord
Title: 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.
Volume: 20
Issue: 11
Pages: 744-52
Publication
First Author: Dale JM
Year: 2011
Journal: Acta Neuropathol
Title: The spinal muscular atrophy mouse model, SMAΔ7, displays altered axonal transport without global neurofilament alterations.
Volume: 122
Issue: 3
Pages: 331-41
Publication
First Author: Sahashi K
Year: 2013
Journal: EMBO Mol Med
Title: Pathological impact of SMN2 mis-splicing in adult SMA mice.
Volume: 5
Issue: 10
Pages: 1586-601
Publication
First Author: Chen YC
Year: 2015
Journal: PLoS One
Title: High expression level of Tra2-β1 is responsible for increased SMN2 exon 7 inclusion in the testis of SMA mice.
Volume: 10
Issue: 3
Pages: e0120721
Publication
First Author: Hosseinibarkooie S
Year: 2016
Journal: Am J Hum Genet
Title: The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
Volume: 99
Issue: 3
Pages: 647-665
Publication
First Author: Hammond SM
Year: 2016
Journal: Proc Natl Acad Sci U S A
Title: Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy.
Volume: 113
Issue: 39
Pages: 10962-7
Publication
First Author: Riessland M
Year: 2017
Journal: Am J Hum Genet
Title: Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
Volume: 100
Issue: 2
Pages: 297-315
Publication
First Author: Sahashi K
Year: 2012
Journal: Genes Dev
Title: TSUNAMI: an antisense method to phenocopy splicing-associated diseases in animals.
Volume: 26
Issue: 16
Pages: 1874-84
Publication
First Author: Cifuentes-Diaz C
Year: 2002
Journal: Hum Mol Genet
Title: Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model.
Volume: 11
Issue: 12
Pages: 1439-47
Publication
First Author: Rodriguez-Muela N
Year: 2018
Journal: J Clin Invest
Title: Blocking p62-dependent SMN degradation ameliorates spinal muscular atrophy disease phenotypes.
Volume: 128
Issue: 7
Pages: 3008-3023
Publication
First Author: Zhang H
Year: 2006
Journal: J Neurosci
Title: Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons.
Volume: 26
Issue: 33
Pages: 8622-32
Publication
First Author: Simon CM
Year: 2010
Journal: Hum Mol Genet
Title: Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophy.
Volume: 19
Issue: 6
Pages: 973-86
Publication
First Author: Akten B
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits.
Volume: 108
Issue: 25
Pages: 10337-42
Publication
First Author: Bogdanik LP
Year: 2015
Journal: Proc Natl Acad Sci U S A
Title: Systemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy.
Volume: 112
Issue: 43
Pages: E5863-72
Publication
First Author: Cobb MS
Year: 2013
Journal: Hum Mol Genet
Title: Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy.
Volume: 22
Issue: 9
Pages: 1843-55
Publication
First Author: Hammond SM
Year: 2010
Journal: PLoS One
Title: Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late.
Volume: 5
Issue: 12
Pages: e15887
Publication
First Author: Bäumer D
Year: 2009
Journal: PLoS Genet
Title: Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy.
Volume: 5
Issue: 12
Pages: e1000773
Publication
First Author: Le TT
Year: 2005
Journal: Hum Mol Genet
Title: SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN.
Volume: 14
Issue: 6
Pages: 845-57
Publication
First Author: Kannan A
Year: 2020
Journal: Brain
Title: ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy.
Volume: 143
Issue: 1
Pages: 69-93
Publication
First Author: El-Khodor BF
Year: 2008
Journal: Exp Neurol
Title: Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy.
Volume: 212
Issue: 1
Pages: 29-43
Publication
First Author: Cherry JJ
Year: 2017
Journal: PLoS One
Title: In vitro and in vivo effects of 2,4 diaminoquinazoline inhibitors of the decapping scavenger enzyme DcpS: Context-specific modulation of SMN transcript levels.
Volume: 12
Issue: 9
Pages: e0185079
Publication
First Author: Arnold WD
Year: 2016
Journal: PLoS One
Title: Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration.
Volume: 11
Issue: 12
Pages: e0167077
Publication
First Author: McGovern VL
Year: 2015
Journal: PLoS One
Title: Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse.
Volume: 10
Issue: 7
Pages: e0132364
Publication
First Author: Shanmugarajan S
Year: 2009
Journal: J Pathol
Title: Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy.
Volume: 219
Issue: 1
Pages: 52-60
Publication
First Author: Yang CW
Year: 2016
Journal: PLoS One
Title: An Integrative Transcriptomic Analysis for Identifying Novel Target Genes Corresponding to Severity Spectrum in Spinal Muscular Atrophy.
Volume: 11
Issue: 6
Pages: e0157426
Publication
First Author: Giesemann T
Year: 1999
Journal: J Biol Chem
Title: A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems.
Volume: 274
Issue: 53
Pages: 37908-14
Publication  
First Author: Houdebine L
Year: 2019
Journal: Front Physiol
Title: Low-Intensity Running and High-Intensity Swimming Exercises Differentially Improve Energy Metabolism in Mice With Mild Spinal Muscular Atrophy.
Volume: 10
Pages: 1258
Publication
First Author: Osman EY
Year: 2014
Journal: Hum Mol Genet
Title: Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models.
Volume: 23
Issue: 18
Pages: 4832-45
Publication
First Author: Li W
Year: 2017
Journal: PLoS One
Title: How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
Volume: 12
Issue: 6
Pages: e0178519
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus