Torsin-1A
Definition:
References:
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[1]. Chenguang Zhao, et al. Regulation of Torsin ATPases by LAP1 and LULL1. Proc Natl Acad Sci U S A. 2013 Apr 23;110(17):E1545-54. [Content Brief]
[2]. Alessandra Granata, et al. The dystonia-associated protein torsinA modulates synaptic vesicle recycling. J Biol Chem. 2008 Mar 21;283(12):7568-79. [Content Brief]
[3]. Jasmin Hettich, et al. Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A. Hum Mutat. 2014 Sep;35(9):1101-13. [Content Brief]
[4]. Flávia C Nery, et al. TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. J Cell Sci. 2008 Oct 15;121(Pt 20):3476-86. [Content Brief]
[5]. Jeffrey W Hewett, et al. Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells. Proc Natl Acad Sci U S A. 2007 Apr 24;104(17):7271-6. [Content Brief]
[6]. Alexander J Burdette, et al. The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro. Cell Stress Chaperones. 2010 Sep;15(5):605-17. [Content Brief]
[7]. Jeffrey W Hewett, et al. Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics. Neurobiol Dis. 2006 Apr;22(1):98-111. [Content Brief]
[8]. Abigail B Vander Heyden, et al. LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. Mol Biol Cell. 2009 Jun;20(11):2661-72. [Content Brief]
[9]. Gonzalo E Torres, et al. Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant. Proc Natl Acad Sci U S A. 2004 Nov 2;101(44):15650-5. [Content Brief]
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