Crossref journal-article
Elsevier BV
Trends in Molecular Medicine (78)
Bibliography

Hamilton, G., & Gillingwater, T. H. (2013). Spinal muscular atrophy: going beyond the motor neuron. Trends in Molecular Medicine, 19(1), 40–50.

Authors 2
  1. Gillian Hamilton (first)
  2. Thomas H. Gillingwater (additional)
References 102 Referenced 314
  1. 10.1016/S0140-6736(08)60921-6 / Lancet / Spinal muscular atrophy by Lunn (2008)
  2. 10.1007/s00401-008-0411-1 / Acta Neuropathol. / Pathogenesis of proximal autosomal recessive spinal muscular atrophy by Simic (2008)
  3. 10.1016/0092-8674(95)90460-3 / Cell / Identification and characterization of a spinal muscular atrophy-determining gene by Lefebvre (1995)
  4. 10.1073/pnas.96.11.6307 / Proc. Natl. Acad. Sci. U.S.A. / A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy by Lorson (1999)
  5. 10.1073/pnas.94.18.9920 / Proc. Natl. Acad. Sci. U.S.A. / Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos by Schrank (1997)
  6. 10.1086/338627 / Am. J. Hum. Genet. / Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy by Feldkotter (2002)
  7. 10.1038/nrn2670 / Nat. Rev. Neurosci. / Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? by Burghes (2009)
  8. 10.1016/S0092-8674(00)80367-0 / Cell / The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins by Liu (1997)
  9. 10.1016/S0092-8674(00)80368-2 / Cell / The SMN–SIP1 complex has an essential role in spliceosomal snRNP biogenesis by Fischer (1997)
  10. 10.1128/MCB.22.18.6533-6541.2002 / Mol. Cell. Biol. / The SMN complex is associated with snRNPs throughout their cytoplasmic assembly pathway by Massenet (2002)
  11. 10.1371/journal.pone.0000921 / PLoS ONE / Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs by Gabanella (2007)
  12. 10.1371/journal.pgen.1000773 / PLoS Genet. / Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy by Baumer (2009)
  13. 10.1083/jcb.200610053 / J. Cell Biol. / A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle by Rajendra (2007)
  14. 10.1073/pnas.0610660104 / Proc. Natl. Acad. Sci. U.S.A. / Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis by Setola (2007)
  15. 10.1074/jbc.M112.362830 / J. Biol. Chem. / Human axonal survival of motor neuron (a-SMN) protein stimulates axon growth, cell motility, C–C motif ligand 2 (CCL2) and insulin-like growth factor-1 (IGF1) production by Locatelli (2012)
  16. 10.1016/j.brainres.2012.01.044 / Brain Res. / Spinal muscular atrophy: the role of SMN in axonal mRNA regulation by Fallini (2012)
  17. 10.1093/hmg/9.3.333 / Hum. Mol. Genet. / The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(−/−) mice and results in a mouse with spinal muscular atrophy by Monani (2000)
  18. 10.1523/JNEUROSCI.1637-06.2006 / J. Neurosci. / Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis by Carrel (2006)
  19. 10.1093/hmg/10.5.497 / Hum. Mol. Genet. / Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy by Jablonka (2001)
  20. 10.1002/j.1460-2075.1996.tb00725.x / EMBO J. / A novel nuclear structure containing the survival of motor neurons protein by Liu (1996)
  21. 10.1093/emboj/20.19.5443 / EMBO J. / SMN interacts with a novel family of hnRNP and spliceosomal proteins by Mourelatos (2001)
  22. 10.1083/jcb.200304128 / J. Cell Biol. / Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons by Rossoll (2003)
  23. 10.1371/journal.pone.0017768 / PLoS ONE / Axonal regeneration and neuronal function are preserved in motor neurons lacking ss-actin in vivo by Cheever (2011)
  24. 10.1242/dmm.007245 / Dis. Model Mech. / The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy by Sleigh (2011)
  25. 10.1093/hmg/9.5.849 / Hum. Mol. Genet. / Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy by Frugier (2000)
  26. 10.1038/71709 / Nat. Genet. / A mouse model for spinal muscular atrophy by Hsieh-Li (2000)
  27. 10.1093/hmg/ddp310 / Hum. Mol. Genet. / Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects by Boon (2009)
  28. 10.1093/hmg/ddg157 / Hum. Mol. Genet. / Neuromuscular defects in a Drosophila survival motor neuron gene mutant by Chan (2003)
  29. 10.1083/jcb.200303168 / J. Cell Biol. / Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding by McWhorter (2003)
  30. 10.1093/hmg/ddm367 / Hum. Mol. Genet. / Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy by Murray (2008)
  31. 10.1111/j.1365-2990.2010.01061.x / Neuropathol. Appl. Neurobiol. / Review: neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy by Murray (2010)
  32. 10.1093/hmg/ddn156 / Hum. Mol. Genet. / Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy by Kariya (2008)
  33. 10.1002/ana.20473 / Ann. Neurol. / Natural history of denervation in SMA: relation to age, SMN2 copy number, and function by Swoboda (2005)
  34. 10.1371/journal.pone.0003209 / PLoS ONE / Modeling spinal muscular atrophy in Drosophila by Chang (2008)
  35. 10.1093/hmg/ddn189 / Hum. Mol. Genet. / Embryonic motor axon development in the severe SMA mouse by McGovern (2008)
  36. 10.1093/hmg/ddp506 / Hum. Mol. Genet. / Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy by Murray (2010)
  37. 10.1093/hmg/11.12.1439 / Hum. Mol. Genet. / Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model by Cifuentes-Diaz (2002)
  38. 10.1016/j.ydbio.2011.05.667 / Dev. Biol. / 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 by Lee (2011)
  39. 10.1523/JNEUROSCI.4434-08.2009 / J. Neurosci. / Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice by Kong (2009)
  40. 10.1093/hmg/ddr453 / Hum. Mol. Genet. / Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy by Ling (2012)
  41. 10.1523/JNEUROSCI.5775-11.2012 / J. Neurosci. / Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction by Gogliotti (2012)
  42. 10.1523/JNEUROSCI.4496-09.2010 / J. Neurosci. / Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice by Ruiz (2010)
  43. 10.1523/JNEUROSCI.2208-10.2010 / J. Neurosci. / 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 by Park (2010)
  44. 10.1016/S0960-8966(97)00047-3 / Neuromuscul. Disord. / Disturbances of neuromuscular interaction may contribute to muscle weakness in spinal muscular atrophy by Greensmith (1997)
  45. 10.1097/NEN.0b013e3181a10ea1 / J. Neuropathol. Exp. Neurol. / The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation by Martinez-Hernandez (2009)
  46. 10.1038/labinvest.3700163 / Lab. Invest. / Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients by Arnold (2004)
  47. 10.1016/S0140-6736(95)90869-2 / Lancet / Constitutive muscular abnormalities in culture in spinal muscular atrophy by Braun (1995)
  48. 10.1016/j.yexcr.2005.08.019 / Exp. Cell Res. / Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology by Shafey (2005)
  49. 10.1083/jcb.152.5.1107 / J. Cell Biol. / Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy by Cifuentes-Diaz (2001)
  50. 10.1093/hmg/ddm379 / Hum. Mol. Genet. / Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect by Gavrilina (2008)
  51. 10.1523/JNEUROSCI.0204-12.2012 / J. Neurosci. / Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy by Martinez (2012)
  52. 10.1016/j.ydbio.2012.05.037 / Dev. Biol. / A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein by Hayhurst (2012)
  53. 10.1093/hmg/ddr360 / Hum. Mol. Genet. / Reversible molecular pathology of skeletal muscle in spinal muscular atrophy by Mutsaers (2011)
  54. 10.1212/01.WNL.0000052788.39340.45 / Neurology / Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy by Rudnik-Schoneborn (2003)
  55. 10.1093/hmg/ddi467 / Hum. Mol. Genet. / Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy by Jablonka (2006)
  56. 10.1371/journal.pone.0015457 / PLoS ONE / Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy by Ling (2010)
  57. 10.1016/j.neuron.2010.12.032 / Neuron / Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy by Mentis (2011)
  58. 10.1093/hmg/ddq340 / Hum. Mol. Genet. / SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy by Wishart (2010)
  59. 10.1016/S0387-7604(03)00075-5 / Brain Dev. / Thalamic lesions in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings by Ito (2004)
  60. 10.1007/BF00685353 / Acta Neuropathol. / A neuropathologic study of Werdnig–Hoffmann disease with special reference to the thalamus and posterior roots by Shishikura (1983)
  61. 10.1136/jmg.2008.057950 / J. Med. Genet. / Congenital heart disease is a feature of severe infantile spinal muscular atrophy by Rudnik-Schoneborn (2008)
  62. 10.1093/hmg/ddq300 / Hum. Mol. Genet. / Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery by Bevan (2010)
  63. 10.1093/hmg/ddq330 / Hum. Mol. Genet. / Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice by Heier (2010)
  64. 10.1093/hmg/ddq329 / Hum. Mol. Genet. / Cardiac defects contribute to the pathology of spinal muscular atrophy models by Shababi (2010)
  65. 10.1016/j.yjmcc.2012.01.005 / J. Mol. Cell. Cardiol. / Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy by Shababi (2012)
  66. 10.1016/j.jpeds.2009.01.071 / J. Pediatr. / Vascular perfusion abnormalities in infants with spinal muscular atrophy by Araujo Ade (2009)
  67. 10.1002/mus.21654 / Muscle Nerve / Digital necroses and vascular thrombosis in severe spinal muscular atrophy by Rudnik-Schoneborn (2010)
  68. 10.1038/nbt.1610 / Nat. Biotechnol. / Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN by Foust (2010)
  69. 10.1002/ana.21449 / Ann. Neurol. / Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition by Narver (2008)
  70. 10.1126/scitranslmed.3000830 / Sci. Transl. Med. / Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy by Valori (2010)
  71. 10.1038/ejhg.2012.222 / Eur. J. Hum. Genet. / Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585 by Schreml (2012)
  72. 10.1016/j.nmd.2011.10.021 / Neuromuscul. Disord. / Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy by Somers (2012)
  73. 10.1177/0883073807305664 / J. Child Neurol. / Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling by Shanmugarajan (2007)
  74. 10.1002/path.2566 / J. Pathol. / Bone loss in survival motor neuron (Smn(−/−) SMN2) genetic mouse model of spinal muscular atrophy by Shanmugarajan (2009)
  75. 10.1177/088307380201700915 / J. Child Neurol. / Severe spinal muscular atrophy variant associated with congenital bone fractures by Felderhoff-Mueser (2002)
  76. 10.1002/(SICI)1096-8628(19991105)87:1<65::AID-AJMG13>3.0.CO;2-5 / Am. J. Med. Genet. / Spinal muscular atrophy variant with congenital fractures by Kelly (1999)
  77. 10.1177/088307380201700916 / J. Child Neurol. / Spinal muscular atrophy with congenital fractures: postmortem analysis by Van Toorn (2002)
  78. 10.1002/ana.23582 / Ann. Neurol. / Glucose metabolism and pancreatic defects in spinal muscular atrophy by Bowerman (2012)
  79. 10.1016/S0002-9440(10)63428-1 / Am. J. Pathol. / Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload by Vitte (2004)
  80. 10.1038/nature10485 / Nature / Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model by Hua (2011)
  81. 10.1016/j.nmd.2010.09.010 / Neuromuscul. Disord. / Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy by Parra (2011)
  82. 10.1016/j.molmed.2011.01.002 / Trends Mol. Med. / Prospects for the gene therapy of spinal muscular atrophy by Passini (2011)
  83. 10.1172/JCI29562 / J. Clin. Invest. / Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy by Avila (2007)
  84. 10.1101/gad.1941310 / Genes Dev. / Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model by Hua (2010)
  85. 10.1038/mt.2011.232 / Mol. Ther. / Bifunctional RNAs targeting the intronic splicing silencer N1 increase SMN levels and reduce disease severity in an animal model of spinal muscular atrophy by Osman (2012)
  86. 10.1126/scitranslmed.3001777 / Sci. Transl. Med. / Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy by Passini (2011)
  87. 10.1093/hmg/ddr600 / Hum. Mol. Genet. / A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse by Porensky (2012)
  88. 10.1523/JNEUROSCI.0950-09.2009 / J. Neurosci. / Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy by Williams (2009)
  89. 10.1038/mt.2009.71 / Mol. Ther. / Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons by Duque (2009)
  90. 10.1172/JCI41615 / J. Clin. Invest. / CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy by Passini (2010)
  91. 10.1093/hmg/ddq514 / Hum. Mol. Genet. / Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice by Dominguez (2011)
  92. 10.1089/hum.2011.166 / Hum. Gene Ther. / Decreasing disease severity in symptomatic, Smn(−/−);SMN2(+/+), spinal muscular atrophy mice following scAAV9-SMN delivery by Glascock (2012)
  93. 10.1016/j.bbrc.2011.11.121 / Biochem. Biophys. Res. Commun. / Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of spinal muscular atrophy by Glascock (2012)
  94. 10.1093/hmg/ddr275 / Hum. Mol. Genet. / Temporal requirement for high SMN expression in SMA mice by Le (2011)
  95. 10.1172/JCI57291 / J. Clin. Invest. / Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy by Lutz (2011)
  96. 10.1038/mt.2011.157 / Mol. Ther. / Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders by Bevan (2011)
  97. 10.1007/s11248-011-9496-8 / Transgenic Res. / Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA by Lorson (2011)
  98. 10.1093/hmg/ddq023 / Hum. Mol. Genet. / SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy by Riessland (2010)
  99. 10.1093/hmg/ddi078 / Hum. Mol. Genet. / 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 by Le (2005)
  100. 10.1016/j.braindev.2012.03.009 / Brain Dev. / Peripheral nerve abnormalities in pediatric patients with spinal muscular atrophy by Yonekawa (2012)
  101. {'key': '10.1016/j.molmed.2012.11.002_bib0505', 'first-page': '175', 'article-title': 'Cardiac involvement in patients with spinal muscular atrophies', 'volume': '30', 'author': 'Palladino', 'year': '2011', 'journal-title': 'Acta Myol.'} / Acta Myol. / Cardiac involvement in patients with spinal muscular atrophies by Palladino (2011)
  102. 10.1016/j.mcn.2009.05.009 / Mol. Cell. Neurosci. / SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis by Bowerman (2009)
Dates
Type When
Created 12 years, 8 months ago (Dec. 8, 2012, 3:33 a.m.)
Deposited 6 years, 1 month ago (July 6, 2019, 5:09 p.m.)
Indexed 2 weeks, 5 days ago (Aug. 3, 2025, midnight)
Issued 12 years, 7 months ago (Jan. 1, 2013)
Published 12 years, 7 months ago (Jan. 1, 2013)
Published Print 12 years, 7 months ago (Jan. 1, 2013)
Funders 0

None

@article{Hamilton_2013, title={Spinal muscular atrophy: going beyond the motor neuron}, volume={19}, ISSN={1471-4914}, url={http://dx.doi.org/10.1016/j.molmed.2012.11.002}, DOI={10.1016/j.molmed.2012.11.002}, number={1}, journal={Trends in Molecular Medicine}, publisher={Elsevier BV}, author={Hamilton, Gillian and Gillingwater, Thomas H.}, year={2013}, month=jan, pages={40–50} }