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Current Gaps in the Understanding of the Subcellular Distribution of Exogenous and Endogenous Protein TorsinA

BACKGROUND: An in-frame deletion leading to the loss of a single glutamic acid residue in the protein torsinA (ΔE-torsinA) results in an inherited movement disorder, DYT1 dystonia. This autosomal dominant disease affects the function of the brain without causing neurodegeneration, by a mechanism tha...

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Autor principal: Harata, N. Charles
Format: Artigo
Idioma:Inglês
Publicat: Columbia University Libraries/Information Services 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4175402/
https://ncbi.nlm.nih.gov/pubmed/25279252
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7916/D8JS9NR2
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