Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA.

@article{Jungwirth2010RelativeTE,
  title={Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA.},
  author={Michael T Jungwirth and Kendal Broadie and Patricia Brown and Kristen Holbrook and Rose E Goodchild},
  journal={Human molecular genetics},
  year={2010},
  volume={19 5},
  pages={888-900}
}
A three base-pair deletion in the widely expressed TOR1A gene causes the childhood onset, neurological disease of DYT1 dystonia. Mouse Tor1a gene knockout also specifically affects the developing nervous system. However, in both cases, the basis of neuronal tissue specificity is unknown. TorsinA is one of four predicted mammalian torsin ATPases associated with assorted cellular activities (AAA+) proteins, raising the possibility that expression of a functionally homologous torsin compensates… CONTINUE READING
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