Neuromuscular Disorders
Volume 18, Issue 4 , Pages 349-353 , April 2008

4th UK spinal muscular atrophy (SMA) researchers network meeting

Received 2 January 2008

References 

  1. Morse R, Shaw DJ, Todd AG, et al. Targeting of SMN to Cajal bodies is mediated by self-association. Hum Mol Genet. 2007;16:2349–2358
  2. Gubitz AK, Feng W, Dreyfuss G. The SMN complex. Exp Cell Res. 2004;296:51–56
  3. Hao le T, Fuller HR, Lam le T, et al. Absence of gemin5 from SMN complexes in nuclear Cajal bodies. BMC Cell Biol. 2007;8:28
  4. Sleeman J. A regulatory role for CRM1 in the multi-directional trafficking of splicing snRNPs in the mammalian nucleus. J Cell Sci. 2007;120:1540–1550
  5. Friesen WJ, Wyce A, Paushkin S, et al. A novel WD repeat protein component of the methylosome binds Sm proteins. J Biol Chem. 2002;277:8243–8247
  6. Boisvert FM, Cote J, Boulanger MC, et al. Symmetrical dimethylarginine methylation is required for the localization of SMN in Cajal bodies and pre-mRNA splicing. J Cell Biol. 2002;159:957–969
  7. Hebert MD, Shpargel KB, Ospina JK, et al. Coilin methylation regulates nuclear body formation. Dev Cell. 2002;3:329–337
  8. Azzouz M, Le T, Ralph GS, et al. Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy. J Clin Invest. 2004;114:1726–1731
  9. Chan YB, Miguel-Aliaga I, Franks C, et al. Neuromuscular defects in a Drosophila survival motor neuron gene mutant. Hum Mol Genet. 2003;12:1367–1376
  10. Skordis LA, Dunckley MG, Yue B, et al. Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci USA. 2003;100:4114–4119
  11. Liu JL, Murphy C, Buszczak M, et al. The Drosophila melanogaster Cajal body. J Cell Biol. 2006;172:875–884
  12. Liu JL, Gall JG. U bodies are cytoplasmic structures that contain uridine-rich small nuclear ribonucleoproteins and associate with P bodies. Proc Natl Acad Sci USA. 2007;104:11655–11659
  13. Miguel-Aliaga I, Culetto E, Walker DS, et al. The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability. Hum Mol Genet. 1999;8:2133–2143
  14. Burt EC, Towers PR, Sattelle DB. Caenorhabditis elegans in the study of SMN-interacting proteins: a role for SMI-1, an orthologue of human Gemin2 and the identification of novel components of the SMN complex. Invert Neurosci. 2006;
  15. Briese M, Esmaeili B, Sattelle DB. Is spinal muscular atrophy the result of defects in motor neuron processes?. Bioessays. 2005;27:946–957
  16. Monani UR, Sendtner M, Coovert DD, 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;9:333–339
  17. Le TT, Pham LT, Butchbach ME, et al. 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. Hum Mol Genet. 2005;14:845–857
  18. Murray LM, Comley LH, Thomson D, et al. 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. 2007;
  19. Pun S, Sigrist M, Santos AF, et al. An intrinsic distinction in neuromuscular junction assembly and maintenance in different skeletal muscles. Neuron. 2002;34:357–370
  20. Buhler D, Raker V, Luhrmann R, et al. Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy. Hum Mol Genet. 1999;8:2351–2357
  21. Giesemann T, Rathke-Hartlieb S, Rothkegel M, et al. A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems. J Biol Chem. 1999;274:37908–37914
  22. Schrank B, Gotz R, Gunnersen JM, 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 USA. 1997;94:9920–9925

PII: S0960-8966(08)00025-4

doi: 10.1016/j.nmd.2008.01.006

Neuromuscular Disorders
Volume 18, Issue 4 , Pages 349-353 , April 2008

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