title: Dystonia and the nuclear envelope.
abstract: Mutations in torsinA cause dominantly inherited early-onset torsion dystonia in humans. In this issue of Neuron, Goodchild et al. show that torsinA knockout and knockin mice have similar phenotypes, which suggests that the mutant torsinA allele causes disease because it has decreased function. The experiments also highlight the possible role of nuclear envelope dynamics in maintaining normal neuronal function.
authors.affiliation: Cell Biology and Gene Expression Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA.
authors.forename: Mark R
authors.initials: MR
authors.lastname: Cookson
authors.forename: Jordi
authors.initials: J
authors.lastname: Clarimon
mesh_terms: D000818:Animals; D001921:Brain / Q000378:metabolism* / Q000503:physiopathology; D002454:Cell Differentiation / Q000235:genetics; D004195:Disease Models, Animal; D004422:Dystonia Musculorum Deformans / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D006801:Humans; D051379:Mice; D018832:Molecular Chaperones / Q000235:genetics / Q000378:metabolism*; D009154:Mutation / Q000235:genetics; D009474:Neurons / Q000378:metabolism*; D009685:Nuclear Envelope / Q000235:genetics / Q000378:metabolism*; D010641:Phenotype
chemical_list: C491548:Dyt1 protein, mouse; D018832:Molecular Chaperones