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TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration
2014
Journal of Clinical Investigation
Lack of a preclinical model of primary dystonia that exhibits dystonic-like twisting movements has stymied identification of the cellular and molecular underpinnings of the disease. The classical familial form of primary dystonia is caused by the DYT1 (ΔE) mutation in TOR1A, which encodes torsinA, AAA + ATPase resident in the lumen of the endoplasmic reticular/nuclear envelope. Here, we found that conditional deletion of Tor1a in the CNS (nestin-Cre Tor1a flox/-) or isolated CNS expression of
doi:10.1172/jci72830
pmid:24937429
pmcid:PMC4071385
fatcat:m3cz6cl4h5az3ezlkqepiy7d7e