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Tor1a  -  torsin family 1, member A (torsin A)

Mus musculus

Synonyms: DQ2, Dystonia 1 protein, Dyt1, Torsin ATPase 1, Torsin family 1 member A, ...
 
 
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Disease relevance of Tor1a

 

Psychiatry related information on Tor1a

 

High impact information on Tor1a

  • Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse [12].
  • This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA [13].
  • A transgene containing lacZ inserted into the dystonia locus is expressed in neural tube [14].
  • An analysis of all possible combinations at DQ has shown that the entire effect was due to heterozygotes expressing the DQ1 and DQ2 alleles [2].
  • The similarity of the DQ8, DQ2 and I-A(g7) peptide-binding pockets suggests that diabetes is caused by the same antigen-presentation event(s) in humans and NOD mice [15].
 

Chemical compound and disease context of Tor1a

 

Biological context of Tor1a

 

Anatomical context of Tor1a

 

Associations of Tor1a with chemical compounds

  • The mutation removes a glutamic acid in the carboxy region of torsinA, a member of the Clp protease/heat shock protein family [21].
  • TorsinA, the gene linked to early-onset dystonia, is upregulated by the dopaminergic toxin MPTP in mice [22].
  • Thus, loss of BNIP-H function could render glutamate excitotoxicity or/and deregulated glutamatergic activation, leading to ataxia, dystonia or other neurological disorders [23].
  • Botulinum toxin versus trihexyphenidyl in cervical dystonia: a prospective, randomized, double-blind controlled trial [24].
  • The neurodegeneration induced by BoNT C1 may be significant in terms of its efficacy for the clinical treatment of dystonia and spasticity [25].
 

Other interactions of Tor1a

 

Analytical, diagnostic and therapeutic context of Tor1a

References

  1. Immunocytochemical characterization of torsin proteins in mouse brain. Konakova, M., Pulst, S.M. Brain Res. (2001) [Pubmed]
  2. Gene interaction at HLA-DQ enhances autoantibody production in primary Sjögren's syndrome. Harley, J.B., Reichlin, M., Arnett, F.C., Alexander, E.L., Bias, W.B., Provost, T.T. Science (1986) [Pubmed]
  3. Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Goodchild, R.E., Kim, C.E., Dauer, W.T. Neuron (2005) [Pubmed]
  4. TorsinB--perinuclear location and association with torsinA. Hewett, J.W., Kamm, C., Boston, H., Beauchamp, R., Naismith, T., Ozelius, L., Hanson, P.I., Breakefield, X.O., Ramesh, V. J. Neurochem. (2004) [Pubmed]
  5. Trak1 mutation disrupts GABA(A) receptor homeostasis in hypertonic mice. Gilbert, S.L., Zhang, L., Forster, M.L., Anderson, J.R., Iwase, T., Soliven, B., Donahue, L.R., Sweet, H.O., Bronson, R.T., Davisson, M.T., Wollmann, R.L., Lahn, B.T. Nat. Genet. (2006) [Pubmed]
  6. The dystonia-associated protein torsinA modulates synaptic vesicle recycling. Granata, A., Watson, R., Collinson, L.M., Schiavo, G., Warner, T.T. J. Biol. Chem. (2008) [Pubmed]
  7. Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation. Sharma, N., Baxter, M.G., Petravicz, J., Bragg, D.C., Schienda, A., Standaert, D.G., Breakefield, X.O. J. Neurosci. (2005) [Pubmed]
  8. Tetrahydrobiopterin biosynthesis, regeneration and functions. Thöny, B., Auerbach, G., Blau, N. Biochem. J. (2000) [Pubmed]
  9. Neurochemical alterations in the cerebellum of a murine model of Niemann-Pick type C disease. Yadid, G., Sotnik-Barkai, I., Tornatore, C., Baker-Cairns, B., Harvey-White, J., Pentchev, P.G., Goldin, E. Brain Res. (1998) [Pubmed]
  10. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Sherr, E.H. Curr. Opin. Pediatr. (2003) [Pubmed]
  11. Tyrosine hydroxylase: human isoforms, structure and regulation in physiology and pathology. Nagatsu, T. Essays Biochem. (1995) [Pubmed]
  12. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. Bomar, J.M., Benke, P.J., Slattery, E.L., Puttagunta, R., Taylor, L.P., Seong, E., Nystuen, A., Chen, W., Albin, R.L., Patel, P.D., Kittles, R.A., Sheffield, V.C., Burmeister, M. Nat. Genet. (2003) [Pubmed]
  13. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Ozelius, L.J., Hewett, J.W., Page, C.E., Bressman, S.B., Kramer, P.L., Shalish, C., de Leon, D., Brin, M.F., Raymond, D., Corey, D.P., Fahn, S., Risch, N.J., Buckler, A.J., Gusella, J.F., Breakefield, X.O. Nat. Genet. (1997) [Pubmed]
  14. A transgene containing lacZ inserted into the dystonia locus is expressed in neural tube. Kothary, R., Clapoff, S., Brown, A., Campbell, R., Peterson, A., Rossant, J. Nature (1988) [Pubmed]
  15. Structure of a human insulin peptide-HLA-DQ8 complex and susceptibility to type 1 diabetes. Lee, K.H., Wucherpfennig, K.W., Wiley, D.C. Nat. Immunol. (2001) [Pubmed]
  16. Congenic mapping and genotyping of the tetrahydrobiopterin-deficient hph-1 mouse. Khoo, J.P., Nicoli, T., Alp, N.J., Fullerton, J., Flint, J., Channon, K.M. Mol. Genet. Metab. (2004) [Pubmed]
  17. Dystonia and the nuclear envelope. Cookson, M.R., Clarimon, J. Neuron (2005) [Pubmed]
  18. Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3. Gecz, J., Pollard, H., Consalez, G., Villard, L., Stayton, C., Millasseau, P., Khrestchatisky, M., Fontes, M. Hum. Mol. Genet. (1994) [Pubmed]
  19. Human genome search in celiac disease: mutated gliadin T-cell-like epitope in two human proteins promotes T-cell activation. Kumar, R., Eastwood, A.L., Brown, M.L., Laurie, G.W. J. Mol. Biol. (2002) [Pubmed]
  20. Developmental patterns of torsinA and torsinB expression. Vasudevan, A., Breakefield, X.O., Bhide, P.G. Brain Res. (2006) [Pubmed]
  21. Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia. Dang, M.T., Yokoi, F., McNaught, K.S., Jengelley, T.A., Jackson, T., Li, J., Li, Y. Exp. Neurol. (2005) [Pubmed]
  22. TorsinA, the gene linked to early-onset dystonia, is upregulated by the dopaminergic toxin MPTP in mice. Kuner, R., Teismann, P., Trutzel, A., Naim, J., Richter, A., Schmidt, N., Bach, A., Ferger, B., Schneider, A. Neurosci. Lett. (2004) [Pubmed]
  23. Brain-specific BNIP-2-homology protein Caytaxin relocalises glutaminase to neurite terminals and reduces glutamate levels. Buschdorf, J.P., Li Chew, L., Zhang, B., Cao, Q., Liang, F.Y., Liou, Y.C., Zhou, Y.T., Low, B.C. J. Cell. Sci. (2006) [Pubmed]
  24. Botulinum toxin versus trihexyphenidyl in cervical dystonia: a prospective, randomized, double-blind controlled trial. Brans, J.W., Lindeboom, R., Snoek, J.W., Zwarts, M.J., van Weerden, T.W., Brunt, E.R., van Hilten, J.J., van der Kamp, W., Prins, M.H., Speelman, J.D. Neurology (1996) [Pubmed]
  25. Syntaxin and 25-kDa synaptosomal-associated protein: differential effects of botulinum neurotoxins C1 and A on neuronal survival. Williamson, L.C., Neale, E.A. J. Neurosci. Res. (1998) [Pubmed]
  26. Profound ataxia in complexin I knockout mice masks a complex phenotype that includes exploratory and habituation deficits. Glynn, D., Drew, C.J., Reim, K., Brose, N., Morton, A.J. Hum. Mol. Genet. (2005) [Pubmed]
  27. Functional analysis of the mouse Scn8a sodium channel. Smith, M.R., Smith, R.D., Plummer, N.W., Meisler, M.H., Goldin, A.L. J. Neurosci. (1998) [Pubmed]
  28. Stimulation of the brain NO/cyclic GMP pathway by peripheral administration of tetrahydrobiopterin in the hph-1 mouse. Canevari, L., Land, J.M., Clark, J.B., Heales, S.J. J. Neurochem. (1999) [Pubmed]
  29. Molecular cloning and expression of rat torsinA in the normal and genetically dystonic (dt) rat. Ziefer, P., Leung, J., Razzano, T., Shalish, C., LeDoux, M.S., Lorden, J.F., Ozelius, L., Breakefield, X.O., Standaert, D.G., Augood, S.J. Brain Res. Mol. Brain Res. (2002) [Pubmed]
  30. Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. Hewett, J., Gonzalez-Agosti, C., Slater, D., Ziefer, P., Li, S., Bergeron, D., Jacoby, D.J., Ozelius, L.J., Ramesh, V., Breakefield, X.O. Hum. Mol. Genet. (2000) [Pubmed]
  31. Effects of botulinum toxin type A on intracortical inhibition in patients with dystonia. Gilio, F., Currà, A., Lorenzano, C., Modugno, N., Manfredi, M., Berardelli, A. Ann. Neurol. (2000) [Pubmed]
  32. Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice. Jiao, Y., Yan, J., Zhao, Y., Donahue, L.R., Beamer, W.G., Li, X., Roe, B.A., Ledoux, M.S., Gu, W. Genetics (2005) [Pubmed]
 
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