Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.

@article{GrosLouis2008Als2MS,
  title={Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.},
  author={François Gros-Louis and Jasna Kriz and Edor Kabashi and Jonathan Robert McDearmid and St{\'e}phanie Millecamps and Makoto Urushitani and Li Lin and Patrick Dion and Qinzhang Zhu and Pierre Drapeau and Jean-Pierre Julien and Guy Rouleau},
  journal={Human molecular genetics},
  year={2008},
  volume={17 17},
  pages={2691-702}
}
Recessive ALS2 mutations are linked to three related but slightly different neurodegenerative disorders: amyotrophic lateral sclerosis, hereditary spastic paraplegia and primary lateral sclerosis. To investigate the function of the ALS2 encoded protein, we generated Als2 knock-out (KO) mice and zAls2 knock-down zebrafish. The Als2(-/-) mice lacking exon 2 and part of exon 3 developed mild signs of neurodegeneration compatible with axonal transport deficiency. In contrast, zAls2 knock-down… CONTINUE READING
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