- Early onset torsion dystonia (Oppenheim's dystonia)Christoph Kamm
Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Hoppe Seyler Str, 3, 72076 Tubingen, Germany
Orphanet J Rare Dis 1:48. 2006....
- TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stressJeffrey Hewett
Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, and Neuroscience Program, Harvard Medical School, Boston, Massachusetts, USA
J Neurosci Res 72:158-68. 2003..Mutant torsinA may interfere with and/or compromise ER functions, especially in dopaminergic neurons, which have high levels of torsinA and are intrinsically vulnerable to oxidative stress...
- The early onset dystonia protein torsinA interacts with kinesin light chain 1Christoph Kamm
Molecular Neurogenetics Unit, Departments of Neurology and Radiology, Massachusetts General Hospital and Neuroscience Program, Harvard Medical School, Boston, MA 02114, USA
J Biol Chem 279:19882-92. 2004..These studies suggest that wild-type torsinA undergoes anterograde transport along microtubules mediated by kinesin and may act as a molecular chaperone regulating kinesin activity and/or cargo binding...
- TorsinB--perinuclear location and association with torsinAJeffrey W Hewett
Departments of Neurology and Radiology, Molecular Neurogenetics Unit, Massachusetts General Hospital, 13th Street, Charlestown, MA 02129, USA
J Neurochem 89:1186-94. 2004..We conclude that torsinB and torsinA are localized in overlapping cell compartments within the same protein complex, and thus may carry out related functions in vivo...
- The variable phenotype of FXTAS: a common cause of "idiopathic" disordersChristoph Kamm
Neurology 65:190-1. 2005