TorsinA

N.C. Harata; R.H. Walker

doi:10.1016/B978-0-12-809324-5.00841-5

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TorsinA

N.C. Harata and R.H. Walker

Reference Module in Neuroscience and Biobehavioral Psychology, pp.243-247

Elsevier Inc

2017

DOI: 10.1016/B978-0-12-809324-5.00841-5

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Abstract

Mutations of the TOR1A gene cause a major form of inherited, generalized dystonia. From in vitro and in vivo studies in animal models, the affected protein, torsinA, appears to have a number of functions which may potentially be of significance for the pathophysiology of dystonia in humans. However, its precise functions, and dysfunction in dystonia, remain to be fully elucidated.

Dystonia

TOR1A(DYT1)

TorsinA

Details

Title: Subtitle: TorsinA
Creators: N.C. Harata - University of Iowa
R.H. Walker - James J. Peters VA Medical Center, Bronx, NY, United States
Resource Type: Encyclopedia entry
Publication Details: Reference Module in Neuroscience and Biobehavioral Psychology, pp.243-247
DOI: 10.1016/B978-0-12-809324-5.00841-5
Publisher: Elsevier Inc
Language: English
Date published: 2017
Academic Unit: Molecular Physiology and Biophysics
Record Identifier: 9984297506002771

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