The role of torsinA in dystonia

European Journal of Neurology

Volumn 17, Issue SUPPL. 1, 2010, Pages 81-87

  Granata, A ^a   Warner, T T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

AAA+ chaperone; Dopaminergic pathway; Dystonia; DYT1; TorsinA

Indexed keywords

CHAPERONE; DOPAMINE; PROTEIN TORSINA; UNCLASSIFIED DRUG; TOR1A PROTEIN, HUMAN;

CARBOXY TERMINAL SEQUENCE; CELL POLARITY; CONFERENCE PAPER; CYTOPLASM; CYTOSKELETON; DYSTONIA; DYT1 GENE; ENDOPLASMIC RETICULUM; EXPERIMENTAL MODEL; GENE; GENE DELETION; GENE MUTATION; HUMAN; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; ANIMAL; DISEASE MODEL; GENETICS; METABOLISM; MOUSE; MUTATION; ONSET AGE; PROTEIN TRANSPORT;

AGE OF ONSET; ANIMALS; DISEASE MODELS, ANIMAL; DYSTONIA; HUMANS; MICE; MOLECULAR CHAPERONES; MUTATION; PROTEIN TRANSPORT;

EID: 77953343290     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2010.03057.x     Document Type: Conference Paper

References (70)

1. Ozelius LJ, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997 17 : 40 48.
2. Bressman SB, Sabatti C, Raymond D, et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000 54 : 1746 1752.
3. Klein C, Liu L, Doheny D, et al. Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. Ann Neurol 2002 52 : 675 679.
4. Calakos N, Patel V, Gottron M, et al. Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. J Med Genet 2009 [Epub ahead of print].
5. Naumann M, Pirker W, Reiners K, Lange KW, Becker G, Brucke T. Imaging the pre- and postsynaptic side of striatal dopaminergic synapses in idiopathic cervical dystonia: a SPECT study using [123I] epidepride and [123I] Beta-CIT. Mov Disord 1998 13 : 319 323.
6. Perlmutter JS, Stambuk MK, Markham J, et al. Decreased [18F]Spiperone binding in putamen in idiopathic focal dystonia. J Neurosci 1997 17 : 843 850.
7. Eidelberg D, Moeller JR, Antonini A, et al. Functional brain networks in DYT1 dystonia. Ann Neurol 1998 44 : 303 312. (Pubitemid 28421433)
8. Playford ED, Fletcher NA, Sawle GV, Marsden CD, Brooks DJ. Striatal [18F]Dopa uptake in familial idiopathic dystonia. Brain 1993 116 (Pt 5 1191 1199.
9. Black KJ, Gado MH, Perlmutter JS. PET measurement of dopamine D2 receptor-mediated changes in striatopallidal function. J Neurosci 1997 17 : 3168 3177.
10. Brashear A, Mulholland GK, Zheng QH, Farlow MR, Siemers ER, Hutchins GD. PET imaging of the pre-synaptic dopamine uptake sites in rapid-onset dystonia-parkinsonism (RDP). Mov Disord 1999 14 : 132 137.
11. Perlmutter JS, Mink JW. Dysfunction of dopaminergic pathways in dystonia. Adv Neurol 2004 94 : 163 170.
12. Augood SJ, Hollingsworth Z, Albers DS, et al. Dopamine transmission in DYT1 dystonia: a biochemical and autoradiographical study. Neurology 2002 59 : 445 448.
13. Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I Gene. Nat Genet 1994 8 : 236 242.
14. Nygaard TG. Dopa-responsive dystonia. delineation of the clinical syndrome and clues to pathogenesis. Adv Neurol 1993 60 : 577 585.
15. Augood SJ, Penney JB Jr., Friberg IK, et al. Expression of the early-onset torsion dystonia Gene (DYT1) in human brain. Ann Neurol 1998 43 : 669 673.
16. Augood SJ, Martin DM, Ozelius LJ, Breakefield XO, Penney JB Jr., Standaert DG. Distribution of the MRNAs encoding TorsinA and TorsinB in the normal adult human brain. Ann Neurol 1999 46 : 761 769.
17. Konakova M, Huynh DP, Yong W, Pulst SM. Cellular distribution of torsin A and torsin B in normal human brain. Arch Neurol 2001 58 : 921 927.
18. Rostasy K, Augood SJ, Hewett JW, et al. Protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol Dis 2003 12 : 11 24.
19. Xiao J, Gong S, Zhao Y, LeDoux MS. Developmental expression of rat torsinA transcript and protein. Brain Res Dev Brain Res 2004 152 : 47 60.
20. Augood SJ, Keller-McGandy CE, Siriani A, et al. Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain. Brain Res 2003 986 : 12 21.
21. Konakova M, Pulst SM. Immunocytochemical characterization of torsin proteins in mouse brain. Brain Res 2001 922 : 1 8.
22. Kamm C, Boston H, Hewett J, et al. The early onset dystonia protein torsinA interacts with kinesin light chain 1. J Biol Chem 2004 279 : 19882 19892.
23. McNaught KS, Kapustin A, Jackson T, et al. Brainstem pathology in DYT1 primary torsion dystonia. Ann Neurol 2004 56 : 540 547.
24. Gonzalez-Alegre P, Paulson HL. Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. J Neurosci 2004 24 : 2593 2601.
25. Hewett J, Gonzalez-Agosti C, Slater D, et al. Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. Hum Mol Genet 2000 9 : 1403 1413.
26. Kustedjo K, Deechongkit S, Kelly JW, Cravatt BF. Recombinant expression, purification, and comparative characterization of torsina and its torsion dystonia-associated variant delta E-torsinA. Biochemistry 2003 42 : 15333 15341.
27. Misbahuddin A, Placzek MR, Taanman JW, et al. Which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells. Mov Disord 2005 20 : 432 440.
28. Neuwald AF, Aravind L, Spouge JL, Koonin EV. AAA+: a class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes. Genome Res 1999 9 : 27 43.
29. Vale RD. AAA Proteins. Lords of the ring. J Cell Biol 2000 150 : F13 F19.
30. Goodchild RE, Dauer WT. Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc Natl Acad Sci USA 2004 101 : 847 852.
31. Naismith TV, Heuser JE, Breakefield XO, Hanson PI. TorsinA in the nuclear envelope. Proc Natl Acad Sci U S A 2004 101 : 7612 7617.
32. Hewett J, Ziefer P, Bergeron D, et al. TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress. J Neurosci Res 2003 72 : 158 168.
33. Hewett JW, Tannous B, Niland BP, et al. Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells. Proc Natl Acad Sci U S A 2007 104 : 7271 7276.
34. Hewett JW, Nery FC, Niland B, et al. SiRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells. Hum Mol Genet 2008 17 : 1436 1445.
35. Torres GE, Sweeney AL, Beaulieu JM, Shashidharan P, Caron MG. 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 101 : 15650 15655.
36. Granata A, Watson R, Collinson LM, Schiavo G, Warner TT. The dystonia-associated protein torsinA modulates synaptic vesicle recycling. J Biol Chem 2008 283 : 7568 7579.
37. Callan AC, Bunning S, Jones OT, High S, Swanton E. Biosynthesis of the dystonia-associated AAA+ atpase torsinA at the endoplasmic reticulum. Biochem J 2007 401 : 607 612.
38. Goodchild RE, Dauer WT. The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. J Cell Biol 2005 168 : 855 862.
39. Hewett JW, Zeng J, Niland BP, Bragg DC, Breakefield XO. Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics. Neurobiol Dis 2006 22 : 98 111.
40. Helfand BT, Chang L, Goldman RD. The dynamic and motile properties of intermediate filaments. Annu Rev Cell Dev Biol 2003 19 : 445 467.
41. Dubey M, Hoda S, Chan WK, Pimenta A, Ortiz DD, Shea TB. Reexpression of vimentin in differentiated neuroblastoma cells enhances elongation of axonal neurites. J Neurosci Res 2004 78 : 245 249.
42. Ferrari-Toninelli G, Paccioretti S, Francisconi S, Uberti D, Memo M. TorsinA negatively controls neurite outgrowth of SH-SY5Y human neuronal cell line. Brain Res 2004 1012 : 75 81.
43. Basham SE, Rose LS. Mutations in Ooc-5 and Ooc-3 disrupt oocyte formation and the reestablishment of asymmetric PAR protein localization in two-cell caenorhabditis elegans embryos. Dev Biol 1999 215 : 253 263.
44. Basham SE, Rose LS. The caenorhabditis elegans polarity gene Ooc-5 encodes a torsin-related protein of the AAA ATPase superfamily. Development 2001 128 : 4645 4656.
45. Bowerman B, Ingram MK, Hunter CP. The maternal Par genes and the segregation of cell fate specification activities in early caenorhabditis elegans embryos. Development 1997 124 : 3815 3826.
46. Breakefield XO, Kamm C, Hanson PI. TorsinA: movement at many levels. Neuron 2001 31 : 9 12.
47. Goodchild RE, Kim CE, Dauer WT. Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron 2005 48 : 923 932.
48. Liberek K, Lewandowska A, Zietkiewicz S. Chaperones in control of protein disaggregation. EMBO J 2008 27 : 328 335.
49. McLean PJ, Kawamata H, Shariff S, et al. TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregation. J Neurochem 2002 83 : 846 854.
50. Caldwell GA, Cao S, Sexton EG, Gelwix CC, Bevel JP, Caldwell KA. Suppression of polyglutamine-induced protein aggregation in caenorhabditis elegans by torsin proteins. Hum Mol Genet 2003 12 : 307 319.
51. Muraro NI, Moffat KG. Down-regulation of Torp4a, encoding the Drosophila homologue of torsinA, results in increased neuronal degeneration. J Neurobiol 2006 66 : 1338 1353.
52. Esapa CT, Waite A, Locke M, et al. SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Hum Mol Genet 2007 16 : 327 342.
53. Ellgaard L, Helenius A. Quality control in the endoplasmic reticulum. Nat Rev Mol Cell Biol 2003 4 : 181 191.
54. Stevens FJ, Argon Y. Protein folding in the ER. Semin Cell Dev Biol 1999 10 : 443 454.
55. Cao S, Gelwix CC, Caldwell KA, Caldwell GA. Torsin-mediated protection from cellular stress in the dopaminergic neurons of caenorhabditis elegans. J Neurosci 2005 25 : 3801 3812.
56. Mullins C, Hartnell LM, Bonifacino JS. Distinct requirements for the AP-3 adaptor complex in pigment granule and synaptic vesicle biogenesis in Drosophila melanogaster. Mol Gen Genet 2000 263 : 1003 1014.
57. Newell-Litwa K, Seong E, Burmeister M, Faundez V. Neuronal and non-neuronal functions of the AP-3 sorting machinery. J Cell Sci 2007 120 (Pt 4 531 541.
58. Ilardi JM, Mochida S, Sheng ZH. Snapin: a SNARE-associated protein implicated in synaptic transmission. Nat Neurosci 1999 2 : 119 124.
59. Granata A, Schiavo G, Warner TT. TorsinA and dystonia: from nuclear envelope to synapse. J Neurochem 2009 109 : 1596 1609.
60. Giles LM, Chen J, Li L, Chin LS. Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope. Hum Mol Genet 2008 17 : 2712 2722.
61. Dang MT, Yokoi F, McNaught KS, et al. Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia. Exp Neurol 2005 196 : 452 463.
62. Gordon KL, Gonzalez-Alegre P. Consequences of the DYT1 mutation on torsinA oligomerization and degradation. Neuroscience 2008 157 : 588 595.
63. Maurizi MR, Xia D. Protein binding and disruption by Clp/Hsp100 chaperones. Structure 2004 12 : 175 183.
64. Shashidharan P, Sandu D, Potla U, et al. Transgenic mouse model of early-onset DYT1 dystonia. Hum Mol Genet 2005 14 : 125 133.
65. Sharma N, Baxter MG, Petravicz J, et al. Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation. J Neurosci 2005 25 : 5351 5355.
66. Balcioglu A, Kim MO, Sharma N, Cha JH, Breakefield XO, Standaert DG. Dopamine release is impaired in a mouse model of DYT1 dystonia. J Neurochem 2007 102 : 783 788.
67. Pisani A, Martella G, Tscherter A, et al. Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia. Neurobiol Dis 2006 24 : 318 325.
68. Dang MT, Yokoi F, Pence MA, Li Y. Motor deficits and hyperactivity in Dyt1 knockdown mice. Neurosci Res 2006 56 : 470 474.
69. Grundmann K, Reischmann B, Vanhoutte G, et al. Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities. Neurobiol Dis 2007 27 : 190 206.
70. Yokoi F, Dang MT, Mitsui S, Li J, Li Y. Motor deficits and hyperactivity in cerebral cortex-specific Dyt1 conditional knockout mice. J Biochem 2008 143 : 39 47.