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.
Publication types
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Comment
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Research Support, N.I.H., Intramural
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Review
MeSH terms
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Animals
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Brain / metabolism*
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Brain / physiopathology
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Cell Differentiation / genetics
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Disease Models, Animal
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Dystonia Musculorum Deformans / genetics
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Dystonia Musculorum Deformans / metabolism*
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Dystonia Musculorum Deformans / physiopathology
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Humans
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Mice
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Molecular Chaperones / genetics
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Molecular Chaperones / metabolism*
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Mutation / genetics
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Neurons / metabolism*
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Nuclear Envelope / genetics
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Nuclear Envelope / metabolism*
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Phenotype
Substances
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Dyt1 protein, mouse
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Molecular Chaperones