Untethering the Nuclear Envelope and Cytoskeleton: Biologically Distinct Dystonias Arising from a Common Cellular Dysfunction

Most cases of early onset DYT1 dystonia in humans are caused by a GAG deletion in the TOR1A gene leading to loss of a glutamic acid (ΔE) in the torsinA protein, which underlies a movement disorder associated with neuronal dysfunction without apparent neurodegeneration. Mutation/deletion of the gene...

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Bibliographic Details
Main Authors: Atai, Nadia A., Ryan, Scott D., Kothary, Rashmi, Breakefield, Xandra O., Nery, Flávia C.
Format: Artigo
Language:Inglês
Published: Hindawi Publishing Corporation 2012
Subjects:
Review Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3352338/
https://ncbi.nlm.nih.gov/pubmed/22611399
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/634214
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