Smn1

Summary

Gene Symbol: Smn1
Description: survival motor neuron 1
Alias: AI849087, Gemin1, Smn, survival motor neuron protein, survival of motor neuron protein
Species: mouse
Products:     Smn1

Top Publications

  1. Biondi O, Grondard C, Lecolle S, Deforges S, Pariset C, Lopes P, et al. Exercise-induced activation of NMDA receptor promotes motor unit development and survival in a type 2 spinal muscular atrophy model mouse. J Neurosci. 2008;28:953-62 pubmed publisher
    Spinal muscular atrophy (SMA) is an inborn neuromuscular disorder caused by low levels of survival motor neuron protein, and for which no efficient therapy exists...
  2. Piazzon N, Rage F, Schlotter F, Moine H, Branlant C, Massenet S. In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein. J Biol Chem. 2008;283:5598-610 pubmed
    Spinal muscular atrophy (SMA) is caused by reduced levels of the survival of motor neuron (SMN) protein...
  3. Bowerman M, Beauvais A, Anderson C, Kothary R. Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum Mol Genet. 2010;19:1468-78 pubmed publisher
    ..SMA is caused by mutations or deletions in the survival motor neuron 1 (SMN1) gene, leading to aberrant neuromuscular junction (NMJ) development and the loss of spinal cord alpha-motor neurons...
  4. Monani U, Pastore M, Gavrilina T, Jablonka S, Le T, Andreassi C, et al. A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. J Cell Biol. 2003;160:41-52 pubmed
    ..Patients lack a functional survival of motor neurons (SMN1) gene, but carry one or more copies of the highly homologous SMN2 gene...
  5. Garcera A, Mincheva S, Gou Fabregas M, Caraballo Miralles V, Llado J, Comella J, et al. A new model to study spinal muscular atrophy: neurite degeneration and cell death is counteracted by BCL-X(L) Overexpression in motoneurons. Neurobiol Dis. 2011;42:415-26 pubmed publisher
    ..SMA) is a motoneuron disorder characterized by deletions or specific mutations in the Survival Motor Neuron gene (SMN)...
  6. Wishart T, Huang J, Murray L, Lamont D, Mutsaers C, Ross J, et al. SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy. Hum Mol Genet. 2010;19:4216-28 pubmed publisher
    Reduced expression of the survival motor neuron (SMN) gene causes the childhood motor neuron disease spinal muscular atrophy (SMA)...
  7. Sahashi K, Hua Y, Ling K, Hung G, Rigo F, Horev G, et al. TSUNAMI: an antisense method to phenocopy splicing-associated diseases in animals. Genes Dev. 2012;26:1874-84 pubmed publisher
    ..Spinal muscular atrophy (SMA) is a motor neuron disease caused by loss-of-function mutations in the SMN1 gene...
  8. Anderton R, Price L, Turner B, Meloni B, Mitrpant C, Mastaglia F, et al. Co-regulation of survival of motor neuron and Bcl-xL expression: implications for neuroprotection in spinal muscular atrophy. Neuroscience. 2012;220:228-36 pubmed publisher
    ..SMA), a fatal genetic motor disorder of infants, is caused by diminished full-length survival of motor neuron (SMN) protein levels...
  9. Porensky P, Mitrpant C, McGovern V, Bevan A, Foust K, Kaspar B, et al. A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet. 2012;21:1625-38 pubmed publisher
    ..SMA results from deletion or mutation of the Survival Motor Neuron 1 gene (SMN1) and retention of SMN2...

More Information

Publications89

  1. El Khodor B, Edgar N, Chen A, Winberg M, Joyce C, Brunner D, et al. Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy. Exp Neurol. 2008;212:29-43 pubmed publisher
    ..by selective loss of alpha-motor neurons and is caused by homozygous loss or mutation in the survival motor neuron (SMN1) gene. Loss of SMN1 is partially compensated by the copy gene, SMN2...
  2. DiDonato C, Chen X, Noya D, Korenberg J, Nadeau J, Simard L. Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene. Genome Res. 1997;7:339-52 pubmed
    Because of a 500-kb inverted duplication, there are two copies of the survival motor neuron (SMN) gene in humans, cenSMN and telSMN...
  3. Gavrilina T, McGovern V, Workman E, Crawford T, Gogliotti R, DiDonato C, et al. Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet. 2008;17:1063-75 pubmed publisher
    Spinal muscular atrophy (SMA) is caused by loss of the survival motor neuron gene (SMN1) and retention of the SMN2 gene. The copy number of SMN2 affects the amount of SMN protein produced and the severity of the SMA phenotype...
  4. Wen H, Lin Y, Ting C, Lin Chao S, Li H, Hsieh Li H. Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy. Hum Mol Genet. 2010;19:1766-78 pubmed publisher
    ..SMA), a motor neuron degeneration disorder, is caused by either mutations or deletions of survival motor neuron 1 (SMN1) gene which result in insufficient SMN protein...
  5. Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Burglen L, Cruaud C, et al. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet. 1995;11:335-7 pubmed
    ..to large-scale deletions whose characterization recently led to the identification of the survival motor neuron (SMN) gene...
  6. Liu H, Shafey D, Moores J, Kothary R. Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy. J Neurosci Res. 2010;88:111-22 pubmed publisher
    Deletions or mutations in survival of motor neuron 1 (SMN1) cause motor neuron loss and spinal muscular atrophy (SMA), a neuromuscular disorder, with the most severe type manifesting in utero...
  7. Shababi M, Habibi J, Yang H, Vale S, Sewell W, Lorson C. Cardiac defects contribute to the pathology of spinal muscular atrophy models. Hum Mol Genet. 2010;19:4059-71 pubmed publisher
    ..The gene responsible for SMA is called Survival Motor Neuron-1 (SMN1). Interestingly, a human-specific copy gene is present on the same region of chromosome 5q, called SMN2...
  8. Gogliotti R, Hammond S, Lutz C, DiDonato C. Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy. Biochem Biophys Res Commun. 2010;391:517-22 pubmed publisher
    Proximal spinal muscular atrophy (SMA) results from loss of the survival motor neuron 1 (SMN1) gene, with retention of its nearly identical homolog, SMN2. There is a direct correlation between disease severity and SMN2 copy number...
  9. Fallini C, Zhang H, Su Y, Silani V, Singer R, Rossoll W, et al. The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons. J Neurosci. 2011;31:3914-25 pubmed publisher
    Spinal muscular atrophy (SMA) results from reduced levels of the survival of motor neuron (SMN) protein, which has a well characterized function in spliceosomal small nuclear ribonucleoprotein assembly...
  10. Osborne M, Gomez D, Feng Z, McEwen C, Beltran J, Cirillo K, et al. Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models. Hum Mol Genet. 2012;21:4431-47 pubmed
    ..genetically engineered to recapitulate the severity of human SMA by using a targeted null mutation at the mouse Smn1 locus coupled with the transgenic addition of varying copy numbers of human SMN2 genes...
  11. Lotti F, Imlach W, Saieva L, Beck E, Hao L, Li D, et al. An SMN-dependent U12 splicing event essential for motor circuit function. Cell. 2012;151:440-54 pubmed publisher
    ..Spinal muscular atrophy (SMA) is a motor neuron disease caused by deficiency of the ubiquitous survival motor neuron (SMN) protein...
  12. Chang J, Hsieh Li H, Jong Y, Wang N, Tsai C, Li H. Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A. 2001;98:9808-13 pubmed
    ..Studies of the correlation between disease severity and the amount of survival motor neuron (SMN) protein have shown an inverse relationship...
  13. Sleigh J, Gillingwater T, Talbot K. The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Dis Model Mech. 2011;4:457-67 pubmed publisher
    Spinal muscular atrophy (SMA), which is caused by inactivating mutations in the survival motor neuron 1 (SMN1) gene, is characterized by loss of lower motor neurons in the spinal cord...
  14. Bowerman M, Murray L, Beauvais A, Pinheiro B, Kothary R. A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology. Neuromuscul Disord. 2012;22:263-76 pubmed publisher
    Spinal muscular atrophy (SMA) is caused by mutations/deletions within the SMN1 gene and characterized by loss of lower motor neurons and skeletal muscle atrophy. SMA is clinically heterogeneous, with disease ranging from severe to mild...
  15. Chen H, Chang J, Lu R, Peng T, Tarn W. The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene. Mol Cell Biol. 2008;28:6929-38 pubmed publisher
    Spinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by the homozygous loss of the SMN1 gene. The human SMN2 gene has a C-to-T transition at position +6 of exon 7 and thus produces exon 7-skipping mRNAs...
  16. Hua Y, Sahashi K, Rigo F, Hung G, Horev G, Bennett C, et al. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature. 2011;478:123-6 pubmed publisher
    ..genetic cause of infant mortality; it results from loss-of-function mutations in the survival motor neuron 1 (SMN1) gene...
  17. Jablonka S, Beck M, Lechner B, Mayer C, Sendtner M. Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy. J Cell Biol. 2007;179:139-49 pubmed
    ..We show that survival motoneuron gene (Smn)-deficient motoneurons exhibit severe defects in clustering Cav2.2 channels in axonal growth cones...
  18. Le T, McGovern V, Alwine I, Wang X, Massoni Laporte A, Rich M, et al. Temporal requirement for high SMN expression in SMA mice. Hum Mol Genet. 2011;20:3578-91 pubmed publisher
    Spinal muscular atrophy (SMA) is caused by loss of the survival motor neuron 1 gene (SMN1) and retention of the SMN2 gene, resulting in reduced SMN...
  19. Zhang H, Robinson N, Wu C, Wang W, Harrington M. Electrophysiological properties of motor neurons in a mouse model of severe spinal muscular atrophy: in vitro versus in vivo development. PLoS ONE. 2010;5:e11696 pubmed publisher
    ..Our results represent the first report on the electrophysiology of SMN-deficient motor neurons, and suggest that motor neuron development in vitro follows a different path than in vivo ..
  20. Bosch Marce M, Wee C, Martinez T, Lipkes C, Choe D, Kong L, et al. Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Hum Mol Genet. 2011;20:1844-53 pubmed publisher
    ..muscular atrophy (SMA) is an inherited motor neuron disease caused by the mutation of the survival motor neuron 1 (SMN1) gene and deficiency of the SMN protein...
  21. Kwon D, Motley W, Fischbeck K, Burnett B. Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice. Hum Mol Genet. 2011;20:3667-77 pubmed publisher
    Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by reduced levels of the survival motor neuron (SMN) protein...
  22. Jablonka S, Schrank B, Kralewski M, Rossoll W, Sendtner M. Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III. Hum Mol Genet. 2000;9:341-6 pubmed
    Spinal muscular atrophy (SMA) is caused by deletion or specific mutations of the telomeric survival motor neuron ( SMN ) gene on human chromosome 5...
  23. Peter C, Evans M, Thayanithy V, Taniguchi Ishigaki N, Bach I, Kolpak A, et al. The COPI vesicle complex binds and moves with survival motor neuron within axons. Hum Mol Genet. 2011;20:1701-11 pubmed publisher
    ..an inherited disease of motor neuron dysfunction, results from insufficient levels of the survival motor neuron (SMN) protein...
  24. Gabanella F, Butchbach M, Saieva L, Carissimi C, Burghes A, Pellizzoni L. Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS ONE. 2007;2:e921 pubmed
    Spinal muscular atrophy (SMA) is a motor neuron disease caused by reduced levels of the survival motor neuron (SMN) protein...
  25. Park G, Maeno Hikichi Y, Awano T, Landmesser L, Monani U. Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene. J Neurosci. 2010;30:12005-19 pubmed publisher
    ..1:6400) autosomal recessive neuromuscular disorder caused by a paucity of the survival of motor neuron (SMN) protein...
  26. Voigt T, Meyer K, Baum O, Schumperli D. 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. Neuromuscul Disord. 2010;20:744-52 pubmed publisher
    In Spinal Muscular Atrophy (SMA), the SMN1 gene is deleted or inactivated...
  27. Bäumer D, Lee S, Nicholson G, Davies J, Parkinson N, Murray L, et al. Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet. 2009;5:e1000773 pubmed publisher
    Spinal muscular atrophy is a severe motor neuron disease caused by inactivating mutations in the SMN1 gene leading to reduced levels of full-length functional SMN protein...
  28. Cifuentes Diaz C, Nicole S, Velasco M, Borra Cebrian C, Panozzo C, Frugier T, et al. Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model. Hum Mol Genet. 2002;11:1439-47 pubmed
    Mutations of survival of the motor neuron gene (SMN1) are responsible for spinal muscular atrophy (SMA), a common genetic cause of death in childhood...
  29. Murray L, Comley L, Thomson D, Parkinson N, Talbot K, Gillingwater T. Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet. 2008;17:949-62 pubmed
    ..Here we have undertaken a detailed morphological investigation of neuromuscular synaptic pathology in the Smn-/-;SMN2 and Smn-/-;SMN2;Delta7 mouse models of SMA...
  30. Workman E, Saieva L, Carrel T, Crawford T, Liu D, Lutz C, et al. A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet. 2009;18:2215-29 pubmed publisher
    ..Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease. Loss of the survival motor neuron (SMN1) gene, in the presence of the SMN2 gene causes SMA...
  31. Frugier T, Tiziano F, Cifuentes Diaz C, Miniou P, Roblot N, Dierich A, et al. Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. Hum Mol Genet. 2000;9:849-58 pubmed
    Deletion of the murine survival of motor neuron gene (SMN) exon 7, the most frequent mutation found in spinal muscular atrophy (SMA) patients, directed to neurons but not to skeletal muscle, enabled generation of a mouse model of SMA ..
  32. Hayhurst M, Wagner A, Cerletti M, Wagers A, Rubin L. A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein. Dev Biol. 2012;368:323-34 pubmed publisher
    Mutations in the Survival of Motor Neuron (SMN) gene underlie the development of spinal muscular atrophy (SMA), which currently represents the leading genetic cause of mortality in infants and toddlers...
  33. Cifuentes Diaz C, Frugier T, Tiziano F, Lacene E, Roblot N, Joshi V, et al. Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy. J Cell Biol. 2001;152:1107-14 pubmed
    ..of the spinal cord associated with muscle paralysis and caused by mutations of the survival motor neuron gene (SMN)...
  34. Liu H, Beauvais A, Baker A, Tsilfidis C, Kothary R. Smn deficiency causes neuritogenesis and neurogenesis defects in the retinal neurons of a mouse model of spinal muscular atrophy. Dev Neurobiol. 2011;71:153-69 pubmed publisher
    ..autosomal recessive neuromuscular disease caused by deletions or mutations in the survival of motor neuron 1 gene (SMN1)...
  35. Nicole S, Desforges B, Millet G, Lesbordes J, Cifuentes Diaz C, Vertes D, et al. Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle. J Cell Biol. 2003;161:571-82 pubmed
    Deletion of murine Smn exon 7, the most frequent mutation found in spinal muscular atrophy, has been directed to either both satellite cells, the muscle progenitor cells and fused myotubes, or fused myotubes only...
  36. Ling K, Lin M, Zingg B, Feng Z, Ko C. Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy. PLoS ONE. 2010;5:e15457 pubmed publisher
    ..SMA, we examined the spinal and neuromuscular circuitry governing hindlimb ambulatory behavior in SMA model mice (SMN?7)...
  37. Ruiz R, Casañas J, Torres Benito L, Cano R, Tabares L. Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice. J Neurosci. 2010;30:849-57 pubmed publisher
    Low levels of survival motor neuron (SMN) protein result in spinal muscular atrophy (SMA), a severe genetic disease characterized by motor impairment and premature lethality...
  38. Bebee T, Dominguez C, Samadzadeh Tarighat S, Akehurst K, Chandler D. Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model. Hum Mol Genet. 2012;21:4301-13 pubmed publisher
    ..Reduced levels of SMN is due to the loss of the SMN1 gene and inefficient splicing of the SMN2 gene caused by a C>T mutation in exon 7...
  39. Foust K, Wang X, McGovern V, Braun L, Bevan A, Haidet A, et al. Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol. 2010;28:271-4 pubmed publisher
    ..Despite knowledge of the pathogenic role of decreased survival motor neuron (SMN) protein levels, efforts to increase SMN have not resulted in a treatment for patients...
  40. Vitte J, Davoult B, Roblot N, Mayer M, Joshi V, Courageot S, et al. Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload. Am J Pathol. 2004;165:1731-41 pubmed
    ..is characterized by degeneration of lower motor neurons caused by mutations of the survival motor neuron 1 gene (SMN1)...
  41. Murray L, Lee S, Bäumer D, Parson S, Talbot K, Gillingwater T. Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy. Hum Mol Genet. 2010;19:420-33 pubmed publisher
    ..motor neuron disease spinal muscular atrophy (SMA) results from reduced expression of the survival motor neuron (SMN) gene...
  42. Gogliotti R, Lutz C, Jorgensen M, Huebsch K, Koh S, DiDonato C. Characterization of a commonly used mouse model of SMA reveals increased seizure susceptibility and heightened fear response in FVB/N mice. Neurobiol Dis. 2011;43:142-51 pubmed publisher
    ..Tg(SMN2)89Ahmb(tg/tg) mice exhibited significantly longer times in finding a safe wall-adjacent square (+54s if Smn(+/+), +90s if Smn(+/-)), as well as a significantly higher frequency of generalized seizure in response to a ..
  43. Kong L, Wang X, Choe D, Polley M, Burnett B, Bosch Marce M, et al. Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci. 2009;29:842-51 pubmed publisher
    ..Together these results indicate that impaired synaptic vesicle release at NMJs in severe SMA is likely to contribute to failed postnatal maturation of motor units and muscle weakness. ..
  44. Rossoll W, Kröning A, Ohndorf U, Steegborn C, Jablonka S, Sendtner M. 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?. Hum Mol Genet. 2002;11:93-105 pubmed
    ..motor neuron disease in children and young adults is caused by mutations in the telomeric survival motor neuron (SMN1) gene...
  45. Bevan A, Hutchinson K, Foust K, Braun L, McGovern V, Schmelzer L, et al. Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet. 2010;19:3895-905 pubmed publisher
    ..Therefore, we have characterized left ventricular (LV) function of SMA mice (SMN2+/+; SMN?7+/+; Smn-/-) and compared it with that of their unaffected littermates at 7 and 14 days of age...
  46. Martinez T, Kong L, Wang X, Osborne M, Crowder M, Van Meerbeke J, et al. Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy. J Neurosci. 2012;32:8703-15 pubmed publisher
    ..motor neuron disease spinal muscular atrophy (SMA) is caused by deficient expression of survival motor neuron (SMN) protein and results in severe muscle weakness...
  47. Gabanella F, Carissimi C, Usiello A, Pellizzoni L. The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation. Hum Mol Genet. 2005;14:3629-42 pubmed
    ..SMA) is a lethal neuromuscular disease caused by reduced levels of expression of the survival motor neuron (SMN) protein...
  48. Schrank B, Gotz R, Gunnersen J, Ure J, Toyka K, Smith A, et al. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc Natl Acad Sci U S A. 1997;94:9920-5 pubmed
    ..Two candidate genes-survival motor neuron (SMN) and neuronal apoptosis inhibitory protein have been identified on chromosome 5q13 by positional cloning...
  49. Zhang H, Xing L, Rossoll W, Wichterle H, Singer R, Bassell G. Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons. J Neurosci. 2006;26:8622-32 pubmed
    ..SMA), a progressive neurodegenerative disease affecting motor neurons, is caused by mutations or deletions of the SMN1 gene encoding the survival of motor neuron (SMN) protein...
  50. Michaud M, Arnoux T, Bielli S, Durand E, Rotrou Y, Jablonka S, et al. Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy. Neurobiol Dis. 2010;38:125-35 pubmed publisher
    Spinal muscular atrophy (SMA) is caused by insufficient levels of the survival motor neuron (SMN) protein leading to muscle paralysis and respiratory failure...
  51. Simon C, Jablonka S, Ruiz R, Tabares L, Sendtner M. Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophy. Hum Mol Genet. 2010;19:973-86 pubmed publisher
    Proximal spinal muscular atrophy (SMA) is caused by homozygous loss or mutation of the SMN1 gene on human chromosome 5...
  52. McGovern V, Gavrilina T, Beattie C, Burghes A. Embryonic motor axon development in the severe SMA mouse. Hum Mol Genet. 2008;17:2900-9 pubmed publisher
    Spinal muscular atrophy (SMA) is caused by reduced levels of survival motor neuron (SMN) protein. Previously, cultured SMA motor neurons showed reduced growth cone size and axonal length...
  53. Butchbach M, Edwards J, Burghes A. Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiol Dis. 2007;27:207-19 pubmed
    ..SMA results from the reduction of SMN (survival motor neuron) protein...
  54. Dale J, Shen H, Barry D, Garcia V, Rose F, Lorson C, et al. The spinal muscular atrophy mouse model, SMA?7, displays altered axonal transport without global neurofilament alterations. Acta Neuropathol. 2011;122:331-41 pubmed publisher
    ..muscular atrophy (SMA) is a neurodegenerative disease resulting from decreased levels of survival motor neuron 1 (SMN1) protein...
  55. Zhang Z, Pinto A, Wan L, Wang W, Berg M, Oliva I, et al. Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy. Proc Natl Acad Sci U S A. 2013;110:19348-53 pubmed publisher
    The motor neuron (MN) degenerative disease, spinal muscular atrophy (SMA) is caused by deficiency of SMN (survival motor neuron), a ubiquitous and indispensable protein essential for biogenesis of snRNPs, key components of pre-mRNA ..
  56. Turner B, Parkinson N, Davies K, Talbot K. Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiol Dis. 2009;34:511-7 pubmed publisher
    Mutations in the ubiquitously expressed survival motor neuron 1 (SMN1) and superoxide dismutase 1 (SOD1) genes are selectively lethal to motor neurons in spinal muscular atrophy (SMA) and familial amyotrophic lateral sclerosis (ALS), ..
  57. Monani U, Sendtner M, Coovert D, Parsons D, Andreassi C, Le T, et al. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet. 2000;9:333-9 pubmed
    ..It is caused by defects in the telomeric survival motor neuron gene ( SMN1 ), but patients retain at least one copy of a highly homologous gene, centromeric SMN ( SMN2 )...
  58. Bergin A, Kim G, Price D, Sisodia S, Lee M, Rabin B. Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron. Gene. 1997;204:47-53 pubmed
    ..2-13.3 (Gilliam et al., 1990), a region that contains three candidate genes: Survival Motor Neuron (SMN) (Lefebvre et al., 1995); Neuronal Apoptosis Inhibitory Protein (NAIP) (Roy et al...
  59. Lee A, Awano T, Park G, Monani U. Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy. PLoS ONE. 2012;7:e46353 pubmed publisher
    The selective vulnerability of motor neurons to paucity of Survival Motor Neuron (SMN) protein is a defining feature of human spinal muscular atrophy (SMA) and indicative of a unique requirement for adequate levels of the protein in ..
  60. Walker M, Rajendra T, Saieva L, Fuentes J, Pellizzoni L, Matera A. SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. Hum Mol Genet. 2008;17:3399-410 pubmed publisher
    ..atrophy (SMA) is a recessive neuromuscular disease caused by mutations in the human survival motor neuron 1 (SMN1) gene...
  61. Gogliotti R, Quinlan K, Barlow C, Heier C, Heckman C, DiDonato C. Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction. J Neurosci. 2012;32:3818-29 pubmed publisher
    ..Using an Hb9-Cre allele, we increased Smn levels autonomously within MNs and demonstrate that MN rescue significantly improves all phenotypes and pathologies ..
  62. Jablonka S, Holtmann B, Meister G, Bandilla M, Rossoll W, Fischer U, et al. Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death. Proc Natl Acad Sci U S A. 2002;99:10126-31 pubmed
    Neuronal degeneration in spinal muscular atrophy is caused by reduced expression of the survival motor neuron (SMN) protein...
  63. Torres Benito L, Neher M, Cano R, Ruiz R, Tabares L. SMN requirement for synaptic vesicle, active zone and microtubule postnatal organization in motor nerve terminals. PLoS ONE. 2011;6:e26164 pubmed publisher
    Low levels of the Survival Motor Neuron (SMN) protein produce Spinal Muscular Atrophy (SMA), a severe monogenetic disease in infants characterized by muscle weakness and impaired synaptic transmission...
  64. Lee Y, Mikesh M, Smith I, Rimer M, Thompson W. Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons. Dev Biol. 2011;356:432-44 pubmed publisher
    ..Thus, if SMA in this particular mouse is a disease of motor neurons, it can act in a manner that does not result in their death or disconnection from their targets but nonetheless alters many aspects of neuromuscular development. ..
  65. Viollet L, Bertrandy S, Bueno Brunialti A, Lefebvre S, Burlet P, Clermont O, et al. cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn). Genomics. 1997;40:185-8 pubmed
    ..and prone to large-scale deletions whose characterization led to the identification of the survival motor neuron (SMN) gene, the SMA determining gene encoding a hitherto unknown protein...
  66. Gogliotti R, Cardona H, Singh J, Bail S, Emery C, Kuntz N, et al. The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models. Hum Mol Genet. 2013;22:4084-101 pubmed publisher
    ..SMA) is caused by insufficient levels of the survival motor neuron (SMN) protein due to the functional loss of the SMN1 gene and the inability of its paralog, SMN2, to fully compensate due to reduced exon 7 splicing efficiency...
  67. Shafey D, MacKenzie A, Kothary R. Neurodevelopmental abnormalities in neurosphere-derived neural stem cells from SMN-depleted mice. J Neurosci Res. 2008;86:2839-47 pubmed publisher
    Spinal muscular atrophy (SMA) is a genetic disorder caused by depletion of survival motor neuron (SMN) protein and characterized by degeneration of alpha-motor neurons in the spinal cord...
  68. Ruggiu M, McGovern V, Lotti F, Saieva L, Li D, Kariya S, et al. A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol Cell Biol. 2012;32:126-38 pubmed publisher
    ..atrophy (SMA) is an inherited motor neuron disease caused by homozygous loss of the Survival Motor Neuron 1 (SMN1) gene...
  69. Riessland M, Ackermann B, Förster A, Jakubik M, Hauke J, Garbes L, et al. SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum Mol Genet. 2010;19:1492-506 pubmed publisher
    ..SMA is caused by functional loss of the survival motor neuron gene 1 (SMN1), whereas disease severity is mainly influenced by the number of SMN2 copies...
  70. Hubers L, Valderrama Carvajal H, Laframboise J, Timbers J, Sanchez G, Cote J. HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects. Hum Mol Genet. 2011;20:553-79 pubmed publisher
    ..atrophy is an autosomal-recessive neuromuscular disease caused by disruption of the survival of motor neuron (SMN) gene, which promotes cytoplasmic assembly of the splicing core machinery...
  71. Kariya S, Park G, Maeno Hikichi Y, Leykekhman O, Lutz C, Arkovitz M, et al. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet. 2008;17:2552-69 pubmed publisher
    ..SMA) is a common pediatric neuromuscular disorder caused by insufficient levels of the survival of motor neuron (SMN) protein...
  72. Balabanian S, Gendron N, MacKenzie A. Histologic and transcriptional assessment of a mild SMA model. Neurol Res. 2007;29:413-24 pubmed
    Spinal muscular atrophy (SMA) is caused by survival of motor neuron (SMN) deficiency, leading to specific motor neuron attrition...
  73. Ling K, Gibbs R, Feng Z, Ko C. Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy. Hum Mol Genet. 2012;21:185-95 pubmed publisher
    Spinal muscular atrophy (SMA), a motoneuron disease caused by a deficiency of the survival of motor neuron (SMN) protein, is characterized by motoneuron loss and muscle weakness...
  74. Bowerman M, Anderson C, Beauvais A, Boyl P, Witke W, Kothary R. SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis. Mol Cell Neurosci. 2009;42:66-74 pubmed publisher
    ..SMA is caused by mutations or deletions in the ubiquitously expressed survival motor neuron 1 (SMN1) gene. Why SMA specifically affects motor neurons remains poorly understood...
  75. Tadesse H, Deschenes Furry J, Boisvenue S, Cote J. KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy. Hum Mol Genet. 2008;17:506-24 pubmed
    ..We report here that KSRP is arginine methylated and interacts with the Tudor domain of SMN, the causative gene for spinal muscular atrophy (SMA), in a CARM1 methylation-dependent fashion...
  76. Cartegni L, Krainer A. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet. 2002;30:377-84 pubmed
    ..Spinal muscular atrophy results from the lack of functional survival of motor neuron 1 gene (SMN1), even though all affected individuals carry a nearly identical, normal SMN2 gene...
  77. Jablonka S, Bandilla M, Wiese S, Buhler D, Wirth B, Sendtner M, et al. Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy. Hum Mol Genet. 2001;10:497-505 pubmed
    ..The disease is caused by mutations of the survival of motor neuron 1 gene (SMN1), resulting in a reduced production of functional SMN protein...
  78. Lutz C, Kariya S, Patruni S, Osborne M, Liu D, Henderson C, et al. Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. J Clin Invest. 2011;121:3029-41 pubmed publisher
    ..frequently inherited cause of infant mortality, being the result of mutations in the survival of motor neuron 1 (SMN1) gene that reduce levels of SMN protein...
  79. Shanmugarajan S, Tsuruga E, Swoboda K, Maria B, Ries W, Reddy S. Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy. J Pathol. 2009;219:52-60 pubmed publisher
    ..Survival motor neuron (SMN) levels are significantly reduced due to deletions/mutations in the telomeric SMN1 gene in these patients...
  80. Groen E, Fumoto K, Blokhuis A, Engelen Lee J, Zhou Y, Van den Heuvel D, et al. ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN. Hum Mol Genet. 2013;22:3690-704 pubmed publisher
    ..numerous FUS interactors including the spinal muscular atrophy (SMA) causing protein survival motor neuron (SMN)...