Article
Characterization of the porcine TOR1A gene: The first step towards generation of a pig model for dystonia.
Gene - 1 Feb 2009
Henriksen Carina, Madsen Lone Bruhn, Bendixen Christian, Larsen Knud
Abstract excerpt
The TOR1A (also named DYT1) gene encodes a protein, TorsinA, a member of the AAA+ superfamily of ATPases. The AAA+ proteins have diverse functions such as organelle biogenesis, proteosome function, chaperone function, membrane trafficking and microtubule regulation. However, the molecular function of TorsinA is still largely unknown. Mutations in the TOR1A gene, primarily a 3-bp (GAG) deletion are associated with...
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