als2b

Summary

Gene Symbol: als2b
Description: amyotrophic lateral sclerosis 2b (juvenile)
Alias: wu:fi21b09, alsin
Species: zebrafish

Top Publications

  1. Gros Louis F, Kriz J, Kabashi E, McDearmid J, Millecamps S, Urushitani M, et al. Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish. Hum Mol Genet. 2008;17:2691-702 pubmed publisher
    ..Thus, we speculate that the newly identified Als2 mRNA species prevent the Als2 KO mice from developing severe neurodegenerative disease and might also regulate the severity of the motor neurons phenotype observed in ALS2 patients. ..
  2. 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
    ..These findings directly link defective splicing of critical neuronal genes induced by SMN deficiency to motor circuit dysfunction, establishing a molecular framework for the selective pathology of SMA. ..