Article
Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics.
Neurobiology of disease - 1 Apr 2006
Hewett Jeffrey W, Zeng Juan, Niland Brian P, Bragg D Cristopher, Breakefield Xandra O
Abstract excerpt
Early onset torsion dystonia is a movement disorder inherited as an autosomal dominant syndrome with reduced penetrance. Symptoms appear to result from altered neuronal circuitry within the brain with no evidence of neuronal loss. Most cases are caused by loss of a glutamic acid residue in the AAA+ chaperone protein, torsinA, encoded in the DYT1 gene. In this study, torsinA was found to move in conjunction with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.