Crossref journal-article
Oxford University Press (OUP)
Human Molecular Genetics (286)
Bibliography

Kariya, S., Park, G.-H., Maeno-Hikichi, Y., Leykekhman, O., Lutz, C., Arkovitz, M. S., Landmesser, L. T., & Monani, U. R. (2008). Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Human Molecular Genetics, 17(16), 2552–2569.

Authors 8
  1. Shingo Kariya (first)
  2. Gyu-Hwan Park (additional)
  3. Yuka Maeno-Hikichi (additional)
  4. Olga Leykekhman (additional)
  5. Cathleen Lutz (additional)
  6. Marc S. Arkovitz (additional)
  7. Lynn T. Landmesser (additional)
  8. Umrao R. Monani (additional)
References 53 Referenced 368
  1. 10.1016/0092-8674(95)90460-3 / Cell / Identification and characterization of a spinal muscular atrophy-determining gene by Lefebvre (1995)
  2. 10.1073/pnas.96.11.6307 / Proc. Natl Acad. Sci. USA / A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy by Lorson (1999)
  3. 10.1093/hmg/8.7.1177 / Hum. Mol. Genet. / A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2 by Monani (1999)
  4. 10.1093/hmg/8.13.2525 / Hum. Mol. Genet. / Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients by Vitali (1999)
  5. 10.1086/515465 / Am. J. Hum. Genet. / Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number by McAndrew (1997)
  6. 10.1086/338627 / Am. J. Hum. Genet. / Quantitative analyses of SMN1 and SMN2 based on real-time light Cycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy by Feldkotter (2002)
  7. 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)
  8. 10.1038/71709 / Nat. Genet. / A mouse model for spinal muscular atrophy by Hsieh-Li (2000)
  9. 10.1016/j.neuron.2005.12.001 / Neuron / Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease by Monani (2005)
  10. 10.1093/hmg/9.1.47 / Hum. Mol. Genet. / Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord by Pagliardini (2000)
  11. 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)
  12. 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)
  13. 10.1093/hmg/11.14.1605 / Hum. Mol. Genet. / Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development by Fan (2002)
  14. 10.1523/JNEUROSCI.23-16-06627.2003 / J. Neurosci. / Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization by Zhang (2003)
  15. 10.1097/00001756-199906030-00003 / Neuroreport / Localization of survival motor neuron protein in human apoptotic-like and regenerating muscle fibers, and neuromuscular junctions by Broccolini (1999)
  16. 10.1038/labinvest.3700163 / Lab. Invest. / Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients by Arnold (2004)
  17. 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)
  18. 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)
  19. 10.1093/hmg/ddg157 / Hum. Mol. Genet. / Neuromuscular defects in a drosophila survival motor neuron gene mutant by Chan (2003)
  20. 10.1083/jcb.200208079 / J. Cell Biol. / A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy by Monani (2003)
  21. 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)
  22. 10.1016/S0959-437X(03)00061-3 / Curr. Opin. Genet. Dev. / Modifier genes and protective alleles in humans and mice by Nadeau (2003)
  23. 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 (2007)
  24. 10.1016/S0960-8966(06)80015-5 / Neuromuscul. Disord. / International SMA consortium meeting (26–28 June 1992, Bonn, Germany) by Munsat (1992)
  25. 10.1097/PHM.0b013e31804a8505 / Am. J. Phys. Med. Rehabil. / Long-term survival in werdnig-hoffmann disease by Bach (2007)
  26. 10.1002/ana.20473 / Ann. Neurol. / Natural history of denervation in SMA: relation to age, SMN2 copy number, and function by Swoboda (2005)
  27. 10.1016/S0006-8993(03)03219-0 / Brain Res. / Elevated neurofilament levels in neurological diseases by Norgren (2003)
  28. 10.1016/j.expneurol.2003.10.004 / Exp. Neurol. / Amyotrophic lateral sclerosis is a distal axonopathy: evidence in mice and man by Fischer (2004)
  29. {'key': 'key\n\t\t\t\t20170522143816_DDN156C29', 'first-page': '441', 'article-title': 'Oxidative stress, mutant SOD1, and neurofilament pathology in transgenic mouse models of human motor neuron disease', 'volume': '76', 'author': 'Tu', 'year': '1997', 'journal-title': 'Lab. Invest.'} / Lab. Invest. / Oxidative stress, mutant SOD1, and neurofilament pathology in transgenic mouse models of human motor neuron disease by Tu (1997)
  30. 10.1006/dbio.1996.0253 / Dev. Biol. / Maturation of the acetylcholine receptor in skeletal muscle: regulation of the AChR gamma-to-epsilon switch by Missias (1996)
  31. 10.1073/pnas.0601468103 / Proc. Natl Acad. Sci. USA / CD24 is expressed by myofiber synaptic nuclei and regulates synaptic transmission by Jevsek (2006)
  32. 10.1016/S0896-6273(01)00521-9 / Neuron / Alterations in transmission, vesicle dynamics, and transmitter release machinery at NCAM-deficient neuromuscular junctions by Polo-Parada (2001)
  33. 10.1523/JNEUROSCI.4406-03.2004 / J. Neurosci. / Distinct roles of different neural cell adhesion molecule (NCAM) isoforms in synaptic maturation revealed by analysis of NCAM 180 kDa isoform-deficient mice by Polo-Parada (2004)
  34. 10.1016/j.neuron.2005.05.018 / Neuron / NCAM 180 acting via a conserved C-terminal domain and MLCK is essential for effective transmission with repetitive stimulation by Polo-Parada (2005)
  35. 10.1006/nbdi.1996.0010 / Neurobiol. Dis. / The neurobiology of childhood spinal muscular atrophy by Crawford (1996)
  36. 10.1111/j.1460-9568.2004.03783.x / Eur. J. Neurosci. / Progressive abnormalities in skeletal muscle and neuromuscular junctions of transgenic mice expressing the huntington's disease mutation by Ribchester (2004)
  37. 10.1038/379174a0 / Nature / Schwann cell apoptosis at developing neuromuscular junctions is regulated by glial growth factor by Trachtenberg (1996)
  38. {'key': 'key\n\t\t\t\t20170522143816_DDN156C38', 'first-page': '1021', 'volume-title': 'Cell Motility', 'author': 'Lasek', 'year': '1976'} / Cell Motility by Lasek (1976)
  39. 10.1126/science.6192501 / Science / Neurofilament accumulation induced in synapses by leupeptin by Roots (1983)
  40. 10.1083/jcb.200703187 / J. Cell Biol. / Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy by Jablonka (2007)
  41. 10.1038/35097557 / Nat. Rev. Neurosci. / Induction, assembly, maturation and maintenance of a postsynaptic apparatus by Sanes (2001)
  42. 10.1113/jphysiol.1982.sp014472 / J. Physiol. / Presynaptic currents in mouse motor endings by Brigant (1982)
  43. 10.1016/S0896-6273(02)00670-0 / Neuron / An intrinsic distinction in neuromuscular junction assembly and maintenance in different skeletal muscles by Pun (2002)
  44. 10.1016/j.yexcr.2005.05.014 / Exp. Cell Res. / A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells by Sharma (2005)
  45. 10.1523/JNEUROSCI.3967-05.2006 / J. Neurosci. / Multiprotein complexes of the survival of motor neuron protein SMN with gemins traffic to neuronal processes and growth cones of motor neurons by Zhang (2006)
  46. 10.1186/1471-2121-8-28 / BMC Cell Biol. / Absence of gemin5 from SMN complexes in nuclear cajal bodies by Hao Le (2007)
  47. 10.1212/WNL.37.8.1361 / Neurology / Extracts of muscle biopsies from patients with spinal muscular atrophies inhibit neurite outgrowth from spinal neurons by Henderson (1987)
  48. 10.1016/S0140-6736(95)90869-2 / Lancet / Constitutive muscular abnormalities in culture in spinal muscular atrophy by Braun (1995)
  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. 10.1083/jcb.200610053 / J. Cell Biol. / A drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle by Rajendra (2007)
  51. 10.1177/0883073807307105 / J. Child Neurol. / A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy by Nadeau (2007)
  52. 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)
  53. 10.1016/j.nbd.2007.04.009 / Neurobiol. Dis. / Abnormal motor phenotype in the SMN Delta7 mouse model of spinal muscular atrophy by Butchbach (2007)
Dates
Type When
Created 17 years, 3 months ago (May 20, 2008, 7:28 p.m.)
Deposited 6 years, 3 months ago (May 11, 2019, 7:04 a.m.)
Indexed 1 month, 4 weeks ago (June 26, 2025, 8:37 p.m.)
Issued 17 years, 3 months ago (May 20, 2008)
Published 17 years, 3 months ago (May 20, 2008)
Published Online 17 years, 3 months ago (May 20, 2008)
Published Print 17 years ago (Aug. 15, 2008)
Funders 0

None

@article{Kariya_2008, title={Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy}, volume={17}, ISSN={0964-6906}, url={http://dx.doi.org/10.1093/hmg/ddn156}, DOI={10.1093/hmg/ddn156}, number={16}, journal={Human Molecular Genetics}, publisher={Oxford University Press (OUP)}, author={Kariya, Shingo and Park, Gyu-Hwan and Maeno-Hikichi, Yuka and Leykekhman, Olga and Lutz, Cathleen and Arkovitz, Marc S. and Landmesser, Lynn T. and Monani, Umrao R.}, year={2008}, month=may, pages={2552–2569} }