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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Detalles Bibliográficos
Autores principales: Atai, Nadia A., Ryan, Scott D., Kothary, Rashmi, Breakefield, Xandra O., Nery, Flávia C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352338/
https://www.ncbi.nlm.nih.gov/pubmed/22611399
http://dx.doi.org/10.1155/2012/634214

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352338/
https://www.ncbi.nlm.nih.gov/pubmed/22611399
http://dx.doi.org/10.1155/2012/634214

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