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Search results 1 to 100 out of 778 for Smn1

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Type Details Score
Gene
6606 | SMN1
Type: gene
Organism: human
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Gene
30432 | smn1
Type: gene
Organism: zebrafish
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Gene
677703 | SMN1
Type: gene
Organism: macaque, rhesus
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Gene
100101724 | smn1
Type: gene
Organism: frog, western clawed
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Gene
64301 | Smn1
Type: gene
Organism: rat
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Protein Domain
IPR040424 | Smn1
Type: Family
Description: A survival motor neuron (SMN) orthologue has been identified and characterized in Schizosaccharomyces pombe [, ]. It is part of the SMN complex, which catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs [, ]. Interestingly, Smn is not present in Saccharomyces cerevisiae. Orthologues of this gene in fungi seem to be present predominately in filamentous fungi [].
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Protein Coding Gene
MGI:109257 | Smn1
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
10749974 | J:61401
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
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Publication
10816558 | -
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
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Publication
22020225 | -
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
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Publication
20400941 | -
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
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Publication
33754639 | -
First Author: Veepaschit J
Year: 2021
Journal: Nucleic Acids Res
Title: Identification and structural analysis of the Schizosaccharomyces pombe SMN complex.
Volume: 49
Issue: 13
Pages: 7207-7223
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Publication
- | J:135422
     
First Author: Murphy A (Regeneron Pharmaceuticals, Inc.)
Year: 2008
Journal: Personal Communication
Title: Smn1 deletion with lacZ knock in.
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Publication
- | J:135423
     
First Author: Murphy A (Regeneron Pharmaceuticals, Inc.)
Year: 2008
Journal: Personal Communication
Title: Smn1 hybrid rescue allele, COIN (conditional inversion)
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Publication
28214532 | J:250756
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
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Publication
21118896 | J:168716
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
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Publication
22306031 | J:181868
 
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
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Publication
12515823 | J:81238
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
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Publication
16434402 | J:110584
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
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Publication
33084884 | J:301445
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
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Publication
18178576 | J:131663
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
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Publication
19329542 | J:148541
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
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Publication
28775379 | J:281591
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
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Publication
22802075 | J:186987
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
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Publication
- | J:135424
     
First Author: Murphy A (Regeneron Pharmaceuticals Inc)
Year: 2008
Journal: Personal Communication
Title: Smn allele B.
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Publication
24983518 | J:213992
 
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
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Publication
11704667 | J:73961
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
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Publication
10615130 | J:59313
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
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Publication
22071333 | J:267126
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
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Publication
26276812 | J:226174
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
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Publication
27870893 | J:255200
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
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Publication
25104390 | J:216311
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
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Publication
25347197 | J:223542
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
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Publication
- | J:135425
     
First Author: Murphy A (Regeneron Pharmaceuticals, Inc.)
Year: 2008
Journal: Personal Communication
Title: Smn allele C.
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Publication
35688133 | J:326049
First Author: Marasco LE
Year: 2022
Journal: Cell
Title: Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy.
Volume: 185
Issue: 12
Pages: 2057-2070.e15
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Publication
36996170 | J:343015
First Author: Arbab M
Year: 2023
Journal: Science
Title: Base editing rescue of spinal muscular atrophy in cells and in mice.
Volume: 380
Issue: 6642
Pages: eadg6518
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Publication
21496457 | J:172060
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
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Publication
26438828 | J:227647
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
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Publication
18794368 | J:142591
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
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Publication
12023986 | J:76936
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
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Publication
24014320 | J:234758
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
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Publication
27499521 | J:248372
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
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Publication
27621445 | J:238346
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
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Publication
29790918 | J:264567
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
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Publication
22895255 | J:186613
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
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Publication
20705738 | J:164889
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
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Publication
24497575 | J:210674
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
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Publication
26374403 | J:318339
 
First Author: Murray LM
Year: 2015
Journal: Acta Neuropathol Commun
Title: Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn (2b/-) mouse model of spinal muscular atrophy.
Volume: 3
Pages: 55
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Publication
23736298 | J:201094
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
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Publication
16914688 | J:111658
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
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Publication
33144430 | J:315666
First Author: Ando S
Year: 2020
Journal: In Vivo
Title: SMN Protein Contributes to Skeletal Muscle Cell Maturation Via Caspase-3 and Akt Activation.
Volume: 34
Issue: 6
Pages: 3247-3254
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Publication
21249120 | J:176267
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
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Publication
9731538 | J:49574
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
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Publication
27111068 | J:244184
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
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Publication
37064776 | J:341749
 
First Author: Chen TH
Year: 2023
Journal: Mol Ther Nucleic Acids
Title: MiR34 contributes to spinal muscular atrophy and AAV9-mediated delivery of MiR34a ameliorates the motor deficits in SMA mice.
Volume: 32
Pages: 144-160
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Publication
37146794 | J:336146
     
First Author: Kataoka M
Year: 2023
Journal: Neurosci Res
Title: Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy.
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Publication
21708901 | J:175452
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
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Publication
28132687 | J:240690
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
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Publication
25781985 | J:229631
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
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Publication
20832308 | J:231141
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
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Publication
26258776 | J:238913
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
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Publication
30842449 | J:275605
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
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Publication
22763238 | J:187404
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
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Publication
23656793 | J:199128
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
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Publication
30733501 | J:276173
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
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Publication
19332122 | J:150474
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
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20022887 | J:157668
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
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Publication
22186025 | J:181560
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
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Publication
21681521 | J:176036
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
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Publication
10655541 | J:60592
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
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Publication
27331400 | J:252482
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
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Publication
19434631 | J:151906
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
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Publication
28945765 | J:250443
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
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Publication
18455159 | J:137949
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
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Publication
10608857 | J:59169
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
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Publication
23390132 | J:194969
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
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Publication
26460027 | J:227184
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
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Publication
29672276 | J:265336
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
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Publication
21652774 | J:173461
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
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Publication
25911676 | J:223810
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
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Publication
15703193 | J:97103
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
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Publication
27907033 | J:251397
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
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Publication
31632295 | J:290178
 
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
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Publication
20190275 | J:159448
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
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Publication
28173138 | J:238645
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
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Publication
21785216 | J:176009
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
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Publication
32038174 | J:314870
 
First Author: Gatius A
Year: 2019
Journal: Front Cell Neurosci
Title: The Y172 Monoclonal Antibody Against p-c-Jun (Ser63) Is a Marker of the Postsynaptic Compartment of C-Type Cholinergic Afferent Synapses on Motoneurons.
Volume: 13
Pages: 582
•
•
•
•
•
Publication
29982416 | J:265815
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
34368854 | J:325629
First Author: Zhao X
Year: 2021
Journal: Hum Mol Genet
Title: SMN protein is required throughout life to prevent spinal muscular atrophy disease progression.
Volume: 31
Issue: 1
Pages: 82-96
•
•
•
•
•
Publication
26134627 | J:238311
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
31828288 | J:293410
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
23029491 | J:191961
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
24781211 | J:213594
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
23512182 | J:213313
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
24086650 | J:206015
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
20019802 | J:161744
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
31851921 | J:293107
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
24760765 | J:213599
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
21785219 | J:176007
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
22723710 | J:185657
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
•
•
•
•
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