smn1

Summary

Gene Symbol: smn1
Description: survival of motor neuron 1, telomeric
Alias: fa12d01, smn, wu:fa12d01, survival motor neuron protein 1, survival motor neuron 1
Species: zebrafish

Top Publications

  1. Carrel T, McWhorter M, Workman E, Zhang H, Wolstencroft E, Lorson C, et al. Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. J Neurosci. 2006;26:11014-22 pubmed
    ..disease caused by low levels of the survival motor neuron (SMN) protein and is linked to mutations or loss of SMN1 and retention of SMN2. How low levels of SMN cause SMA is unclear...
  2. McWhorter M, Monani U, Burghes A, Beattie C. Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol. 2003;162:919-31 pubmed
    ..SMA is caused by low levels of the ubiquitously expressed survival motor neuron (Smn) protein...
  3. Oprea G, Kröber S, McWhorter M, Rossoll W, Muller S, Krawczak M, et al. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science. 2008;320:524-7 pubmed publisher
    Homozygous deletion of the survival motor neuron 1 gene (SMN1) causes spinal muscular atrophy (SMA), the most frequent genetic cause of early childhood lethality...
  4. Hao L, WOLMAN M, Granato M, Beattie C. Survival motor neuron affects plastin 3 protein levels leading to motor defects. J Neurosci. 2012;32:5074-84 pubmed publisher
    ..SMA is caused by decreased levels of the survival motor neuron protein (SMN) and in its most severe form causes death in infants and young children...
  5. Dodd A, Curtis P, Williams L, Love D. Zebrafish: bridging the gap between development and disease. Hum Mol Genet. 2000;9:2443-9 pubmed
  6. Hao L, Duy P, Jontes J, WOLMAN M, Granato M, Beattie C. Temporal requirement for SMN in motoneuron development. Hum Mol Genet. 2013;22:2612-25 pubmed publisher
    ..onset motoneuron disease spinal muscular atrophy (SMA), caused by low levels of the survival motor neuron (SMN) protein, is characterized by muscle denervation and paralysis...
  7. Sleigh J, Barreiro Iglesias A, Oliver P, Biba A, Becker T, Davies K, et al. Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy. Hum Mol Genet. 2014;23:855-69 pubmed publisher
    ..is characterized by the selective loss of spinal motor neurons owing to reduced levels of survival motor neuron (Smn) protein...
  8. Riessland M, Kaczmarek A, Schneider S, Swoboda K, Löhr H, Bradler C, et al. Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. Am J Hum Genet. 2017;100:297-315 pubmed publisher
    Homozygous SMN1 loss causes spinal muscular atrophy (SMA), the most common lethal genetic childhood motor neuron disease...
  9. Wishart T, Mutsaers C, Riessland M, Reimer M, Hunter G, Hannam M, et al. Dysregulation of ubiquitin homeostasis and ?-catenin signaling promote spinal muscular atrophy. J Clin Invest. 2014;124:1821-34 pubmed publisher
    ..recessive neurodegenerative disease spinal muscular atrophy (SMA) results from low levels of survival motor neuron (SMN) protein; however, it is unclear how reduced SMN promotes SMA development...

More Information

Publications30

  1. Linder B, Dill H, Hirmer A, Brocher J, Lee G, Mathavan S, et al. Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa. Hum Mol Genet. 2011;20:368-77 pubmed publisher
    ..Hence, various routes affecting the tri-snRNP can elicit tissue-specific gene expression defects and lead to the RP phenotype. ..
  2. Winkler C, Eggert C, Gradl D, Meister G, Giegerich M, Wedlich D, et al. Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy. Genes Dev. 2005;19:2320-30 pubmed
    Spinal muscular atrophy (SMA) is a motoneuron disease caused by reduced levels of survival motoneuron (SMN) protein...
  3. Strzelecka M, Trowitzsch S, Weber G, Luhrmann R, Oates A, Neugebauer K. Coilin-dependent snRNP assembly is essential for zebrafish embryogenesis. Nat Struct Mol Biol. 2010;17:403-9 pubmed publisher
    ..Thus, coilin's essential function in embryos is to promote macromolecular assembly of snRNPs, likely by concentrating snRNP components in CBs to overcome rate-limiting assembly steps. ..
  4. McWhorter M, Boon K, Horan E, Burghes A, Beattie C. The SMN binding protein Gemin2 is not involved in motor axon outgrowth. Dev Neurobiol. 2008;68:182-94 pubmed
    A paramount question in spinal muscular atrophy (SMA) research is why reduced levels of SMN, a ubiquitously expressed protein, leads to a motoneuron-specific disease...
  5. Wiley D, Juan I, Le H, Cai X, Baumbach L, BEATTIE C, et al. Yeast Augmented Network Analysis (YANA): a new systems approach to identify therapeutic targets for human genetic diseases. F1000Res. 2014;3:121 pubmed publisher
    ..This study demonstrates the power of combining synthetic and chemical genetics with a simple model system to identify human disease gene networks that can be exploited for treating human diseases. ..
  6. Hao le T, Duy P, An M, Talbot J, Iyer C, WOLMAN M, et al. HuD and the Survival Motor Neuron Protein Interact in Motoneurons and Are Essential for Motoneuron Development, Function, and mRNA Regulation. J Neurosci. 2017;37:11559-11571 pubmed publisher
    ..The motoneuron disease spinal muscular atrophy (SMA) is caused by low levels of the survival motor neuron (SMN) protein leading to defects in vertebrate motoneuron development and synapse formation...
  7. 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...
  8. Miller N, Feng Z, Edens B, Yang B, Shi H, Sze C, et al. Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy. J Neurosci. 2015;35:6038-50 pubmed publisher
    ..Altogether, our findings suggest a novel mechanism for SMA pathogenesis in which hyperphosphorylation of non-aggregating tau by Cdk5 contributes to motor neuron degeneration. ..
  9. McGovern V, Massoni Laporte A, Wang X, Le T, Le H, Beattie C, et al. Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse. PLoS ONE. 2015;10:e0132364 pubmed publisher
    Spinal muscular atrophy is caused by loss of the SMN1 gene and retention of SMN2. The SMN2 copy number inversely correlates with phenotypic severity and is a modifier of disease outcome...
  10. Strzelecka M, Oates A, Neugebauer K. Dynamic control of Cajal body number during zebrafish embryogenesis. Nucleus. 2010;1:96-108 pubmed publisher
    ..We propose that CB number is regulated during development to respond to the demands of gene expression in a rapidly growing embryo. ..
  11. Powis R, Karyka E, Boyd P, Côme J, Jones R, Zheng Y, et al. Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy. JCI Insight. 2016;1:e87908 pubmed
    ..autosomal recessive neuromuscular disease spinal muscular atrophy (SMA) is caused by loss of survival motor neuron (SMN) protein...
  12. Spiró Z, Koh A, Tay S, See K, Winkler C. Transcriptional enhancement of Smn levels in motoneurons is crucial for proper axon morphology in zebrafish. Sci Rep. 2016;6:27470 pubmed publisher
    An unresolved mystery in the field of spinal muscular atrophy (SMA) is why a reduction of the ubiquitously expressed Smn protein causes defects mostly in motoneurons...
  13. Li H, Custer S, Gilson T, Hao L, Beattie C, Androphy E. α-COP binding to the survival motor neuron protein SMN is required for neuronal process outgrowth. Hum Mol Genet. 2015;24:7295-307 pubmed publisher
    ..SMA), a heritable neurodegenerative disease, results from insufficient levels of the survival motor neuron (SMN) protein. α-COP binds to SMN, linking the COPI vesicular transport pathway to SMA...
  14. Giacomotto J, Rinkwitz S, Becker T. Effective heritable gene knockdown in zebrafish using synthetic microRNAs. Nat Commun. 2015;6:7378 pubmed publisher
    ..Using this approach, we reproduce spinal muscular atrophy (SMA) in zebrafish by targeting the smn1 gene...
  15. Boon K, Xiao S, McWhorter M, Donn T, Wolf Saxon E, Bohnsack M, et al. Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects. Hum Mol Genet. 2009;18:3615-25 pubmed publisher
    ..Reduced levels of survival motor neuron (SMN) protein cause SMA...
  16. Hao L, Duy P, Jontes J, Beattie C. Motoneuron development influences dorsal root ganglia survival and Schwann cell development in a vertebrate model of spinal muscular atrophy. Hum Mol Genet. 2015;24:346-60 pubmed publisher
    Low levels of the survival motor neuron protein (SMN) cause the disease spinal muscular atrophy. A primary characteristic of this disease is motoneuron dysfunction and paralysis...
  17. Hosseinibarkooie S, Peters M, Torres Benito L, Rastetter R, Hupperich K, Hoffmann A, et al. The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype. Am J Hum Genet. 2016;99:647-665 pubmed publisher
    Homozygous loss of SMN1 causes spinal muscular atrophy (SMA), the most common and devastating childhood genetic motor-neuron disease...
  18. Boyd P, Tu W, Shorrock H, Groen E, Carter R, Powis R, et al. Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy. PLoS Genet. 2017;13:e1006744 pubmed publisher
    ..of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein...
  19. Edens B, Ajroud Driss S, Ma L, Ma Y. Molecular mechanisms and animal models of spinal muscular atrophy. Biochim Biophys Acta. 2015;1852:685-92 pubmed publisher
    ..Although the genetic cause of SMA has been mapped to the Survival Motor Neuron1 (SMN1) gene, mechanisms underlying selective motor neuron degeneration in SMA remain largely unknown...
  20. Van Hoecke A, Schoonaert L, Lemmens R, Timmers M, Staats K, Laird A, et al. EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat Med. 2012;18:1418-22 pubmed
    ..This suggests that Epha4 generically modulates the vulnerability of (motor) neurons to axonal degeneration and may represent a new target for therapeutic intervention. ..
  21. Chitramuthu B, Baranowski D, Kay D, Bateman A, Bennett H. Progranulin modulates zebrafish motoneuron development in vivo and rescues truncation defects associated with knockdown of Survival motor neuron 1. Mol Neurodegener. 2010;5:41 pubmed publisher
    ..over-expression was found to reverse the truncation defect resulting from knockdown of Survival of motor neuron 1 (smn1)...