Neuron. 2001 Jul 19;31(1):9-12.

TorsinA: movement at many levels.

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Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, 02129, Boston, MA, USA. breakefield@helix.mgh.harvard.edu

Abstract

TorsinA is the causative protein in the human neurologic disease early onset torsin dystonia, a movement disorder involving dysfunction in the basal ganglia without apparent neurodegeneration. Most cases result from a dominantly acting three-base pair deletion in the TOR1A gene causing loss of a glutamic acid near the carboxyl terminus of torsinA. Torsins are members of the AAA(+) superfamily of ATPases and are present in all multicellular organisms. Initial studies suggest that torsinA is an ER protein involved in chaperone functions and/or membrane movement.

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Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. [Hum Mol Genet. 2000]
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Cited by 22 PubMed Central articles

Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunction. [Int J Cell Biol. 2012]
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Atai NA, Ryan SD, Kothary R, Breakefield XO, Nery FC. Int J Cell Biol. 2012; 2012:634214. Epub 2012 May 6.
Dtorsin, the Drosophila ortholog of the early-onset dystonia TOR1A (DYT1), plays a novel role in dopamine metabolism. [PLoS One. 2011]
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Wakabayashi-Ito N, Doherty OM, Moriyama H, Breakefield XO, Gusella JF, O'Donnell JM, Ito N. PLoS One. 2011; 6(10):e26183. Epub 2011 Oct 12.
Review Molecular pathways in dystonia. [Neurobiol Dis. 2011]
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