RNAi blocks DYT1 mutant torsinA inclusions in neurons

Neuroscience Letters

Volumn 395, Issue 3, 2006, Pages 201-205

  Kock, Norman ^a,b   Allchorne, Andrew J ^a   Sena Esteves, Miguel ^a   Woolf, Clifford J ^a   Breakefield, Xandra O ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF LÜBECK   (Germany)

Author keywords

DYT1; RNAi; shRNA; TorsinA

Indexed keywords

AZELASTINE; GLUTAMIC ACID; LENTIVIRUS VECTOR; MUTANT PROTEIN; PROTEIN; SHORT HAIRPIN RNA; TORSINA PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL NUCLEUS INCLUSION BODY; DYSTONIA; GENE DELETION; MUTANT; NERVE CELL; NERVE CELL CULTURE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; RAT; RNA INTERFERENCE; SPINAL GANGLION; VIRUS INFECTION; WILD TYPE;

ANIMALS; CELLS, CULTURED; CLONING, MOLECULAR; GANGLIA, SPINAL; GENE DELETION; GENES, GAG; GENETIC VECTORS; GLUTAMIC ACID; HUMANS; LENTIVIRUS; MOLECULAR CHAPERONES; NEURONS; OLIGONUCLEOTIDES; RATS; RATS, SPRAGUE-DAWLEY; RNA INTERFERENCE; RNA, SMALL INTERFERING;

EID: 32244433646     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2005.10.098     Document Type: Article

References (34)

1. S.C. Benn, D. Perrelet, A.C. Kato, J. Scholz, I. Decosterd, R.J. Mannion, J.C. Bakowska, and C.J. Woolf Hsp27 upregulated and phosphorylation is required for injured sensory and motor neuron survival Neuron 36 2002 45 56
2. X.O. Breakefield, C. Kamm, and P.I. Hanson TorsinA: movement at many levels Neuron 31 2001 9 12
3. S.B. Bressman, C. Sabatti, D. Raymond, D. De Leon, C. Klein, P.L. Kramer, M.F. Brin, S. Fahn, X.O. Breakefield, L.J. Ozelius, and N.J. Risch The DYT1 phenotype and guidelines for diagnostic testing Neurology 54 2000 1746 1752
4. T.R. Brummelkamp, R. Bernards, and R. Agami A system for stable expression of short interfering RNAs in mammalian cells Science 296 2002 550 553
5. S. Cao, C.C. Gelwix, K.A. Caldwell, and G.A. Caldwell Torsin-mediated protection from cellular stress in the dopaminergic neurons of Caenorhabditis elegans J. Neurosci. 25 2005 380 13812
6. M.T. Dang, F. Yokoi, K.S. McNaught, T.A. Jengelley, T. Jackson, J. Li, and Y. Li Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia Exp. Neurol. 196 2005 452 463
7. W. Dauer, and R. Goodchild Mouse models of torsinA dysfunction Adv. Neurol. 94 2004 67 72
8. B.L. Davidson, and X.O. Breakefield Viral vectors for gene delivery to the nervous system Nat. Rev. Neurosci. 4 2003 353 364
9. P. Gonzalez-Alegre, V.M. Miller, B.L. Davidson, and H.L. Paulson Toward therapy for DYT1 dystonia: allele-specific silencing of mutant torsinA Ann. Neurol. 53 2003 781 787
10. P. Gonzalez-Alegre, and H.L. Paulson Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia J. Neurosci. 24 2004 2593 2601
11. R.E. Goodchild, and W.T. Dauer Mislocalization of the nuclear envelope: an effect of the dystonia-causing torsinA mutation Proc. Natl. Acad. Sci. U.S.A. 1001 2004 847 852
12. R.E. Goodchild, and W.T. Dauer The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein Cell. Biol. 168 2005 855 862
13. S.Q. Harper, P.D. Staber, X. He, S.L. Eliason, I.H. Martins, Q. Mao, L. Yang, R.M. Kotin, H.L. Paulson, and B.L. Davidson RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model Proc. Natl. Acad. Sci. U.S.A. 102 2005 5820 5825
14. J. Hewett, C. Gonzalez-Agosti, D. Slater, S. Li, P. Ziefer, D. Bergeron, D.J. Jacoby, L.J. Ozelius, V. Ramesh, and X.O. Breakefield Mutant torsinA, responsible for early onset torsion dystonia, forms membrane inclusions in cultured neural cells Hum. Mol. Genet. 22 2000 1403 1413
15. J. Hewett, J. Zeng, D.C. Bragg, X.O. Breakefield, Dystonia-causing mutant form of torsinA inhibits cell adhesion and neurite extension through association with vimentin, Neurobiol. Dis., under revision.
16. J. Hewett, P. Ziefer, D. Bergeron, T. Naismith, H. Boston, D. Slater, J. Wilbur, D. Schuback, C. Kamm, N. Smith, S. Camp, L.J. Ozelius, V. Ramesh, P.I. Hanson, and X.O. Breakefield TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress J. Neurosci. Res. 72 2003 158 168
17. C. Kamm, H. Boston, J. Hewett, J. Wilbur, D.P. Corey, P.I. Hanson, V. Ramesh, and X.O. Breakefield The early onset dystonia protein torsinA interacts with kinesin light chain 1 J. Biol. Chem. 279 2004 19882 19892
18. M. Konakova, and S.M. Pulst Dystonia-associated forms of torsinA are deficient in ATPase activity J. Mol. Neurosci. 25 2005 105 117
19. R. Kuner, P. Teismann, A. Trutzel, J. Naim, A. Richter, N. Schmidt, O. von Ahsen, A. Bach, B. Ferger, and A. Schneider TorsinA protects against oxidative stress in COS-1 and PC12 cells Neurosci. Lett. 350 2003 153 156
20. P.Y. Lu, F. Xie, and M.C. Woodle In vivo application of RNA interference: from functional genomics to therapeutics Adv. Genet. 54 2005 117 142
21. K.S. McNaught, A. Kapustin, T. Jackson, T.A. Jengelley, R. Jnobaptiste, P. Shashidharan, D.P. Perl, P. Pasik, and C.W. Olanow Brainstem pathology in DYT1 primary torsion dystonia Ann. Neurol. 56 2004 540 547
22. T.V. Naismith, J.E. Heuser, X.O. Breakefield, and P.I. Hanson TorsinA in the nuclear envelope Proc. Natl. Acad. Sci. U.S.A. 101 2004 7612 7617
23. A.F. Neuwald, L. Aravind, J.L. Spouge, and E.V. Koonin AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes Genome Res. 9 1999 27 43
24. L.J. Ozelius, J. Hewett, C. Page, S. Bressman, P. Kramer, C. Shalish, D. de Leon, M. Brin, D. Raymond, D.P. Corey, S. Fahn, N. Risch, A. Buckler, J.F. Gusella, and X.O. Breakefield The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein Nat. Genet. 17 1997 40 48
25. G.S. Ralph, P.A. Radcliffe, D.M. Day, J.M. Carthy, M.A. Leroux, D.C. Lee, L.F. Wong, L.G. Bilsland, L. Greensmith, S.M. Kingsman, K.A. Mitrophanous, N.D. Mazarakis, and M. Azzouz Silencing mutant SOD1 using RNAi protects against neurodegeneration and extends survival in an ALS model Nat. Med. 11 2005 429 433
26. M. Sena-Esteves, J.C. Tebbets, S. Steffens, T. Crombleholme, and A.W. Flake Optimized large-scale production of high titer lentivirus vector pseudotypes J. Virol. Methods 122 2004 131 139
27. N. Sharma, M.G. Baxter, J. Petravicz, D.C. Bragg, A. Schienda, D.G. Standaert, and X.O. Breakefield Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation J. Neurosci. 25 2005 5351 5355
28. P. Shashidharan, N. Paris, D. Sandu, L. Karthikeyan, K.S. McNaught, R.H. Walker, and C.W. Olanow Overexpression of torsinA in PC12 cells protects against toxicity J. Neurochem. 88 2004 1019 1025
29. P. Shashidharan, D. Sandu, U. Potla, I.A. Armata, R.H. Walker, K.S. McNaught, D. Weisz, T. Sreenath, M.F. Brin, and C.W. Olanow Transgenic mouse model of early-onset DYT1 dystonia Hum. Mol. Genet. 14 2005 125 133
30. J. Soutschek, A. Akinc, B. Bramlage, K. Charisse, R. Constien, M. Donoghue, S. Elbashir, A. Geick, P. Hadwiger, J. Harborth, M. John, V. Kesavan, G. Lavine, R.K. Pandey, T. Racie, K.G. Rajeev, I. Rohl, I. Toudjarska, G. Wang, S. Wuschko, D. Bumcrot, V. Koteliansky, S. Limmer, M. Manoharan, and H.P. Vornlocher Therapeutic silencing of an endogenous gene by systemic administration of modified siRNAs Nature 432 2004 173 178
31. G.E. Torres, A.L. Sweeney, J.M. Beaulieu, P. Shashidharan, and M.G. Caron Effect of torsinA on membrane proteins reveals a loss of function and a dominant negative phenotype of the dystonia-associated {Delta}E-torsinA mutant Proc. Natl. Acad. Sci. U.S.A. 101 2004 15650 15655
32. M. Vidailhet, L. Vercueil, J.L. Houeto, P. Krystkowiak, A.L. Benabid, P. Cornu, C. Lagrange, S. Tezenas du Montcel, D. Dormont, S. Grand, S. Blond, O. Detante, B. Pillon, C. Ardouin, Y. Agid, A. Destee, and P. Pollak Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia N. Engl. J. Med. 352 2005 459 467
33. H. Xia, Q. Mao, S.L. Eliason, S.Q. Harper, I.H. Martins, H.T. Orr, H.L. Paulson, L. Yang, R.M. Kotin, and B.L. Davidson RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia Nat. Med. 10 2004 816 820
34. J. Xiao, S. Gong, Y. Zhao, and M.S. LeDoux Developmental expression of rat torsinA transcript and protein Brain Res. Dev. Brain Res. 152 2004 47 60