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

@article{Voigt2010UltrastructuralCI,
  title={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},
  author={Tilman Voigt and Kathrin Meyer and Oliver Baum and Daniel Sch{\"u}mperli},
  journal={Neuromuscular Disorders},
  year={2010},
  volume={20},
  pages={744-752}
}
In Spinal Muscular Atrophy (SMA), the SMN1 gene is deleted or inactivated. Because of a splicing problem, the second copy gene, SMN2, generates insufficient amounts of functional SMN protein, leading to the death of spinal cord motoneurons. For a "severe" mouse SMA model (Smn -/-, hSMN2 +/+; with affected pups dying at 5-7 days), which most closely mimicks the genetic set-up in human SMA patients, we characterise SMA-related ultrastructural changes in neuromuscular junctions (NMJs) of two… CONTINUE READING

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References

Publications referenced by this paper.
SHOWING 1-10 OF 51 REFERENCES

Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice.

  • The Journal of neuroscience : the official journal of the Society for Neuroscience
  • 2009
VIEW 1 EXCERPT