TorsinA expression is detectable in human infants as young as 4 weeks old

Developmental Brain Research

Volumn 157, Issue 1, 2005, Pages 19-26

  Siegert, S ^a   Bahn, E ^a   Kramer, M L ^a   Schulz Schaeffer, W J ^a   Hewett, J W ^b   Breakefield, X O ^b   Hedreen, J C ^c   Rostasy, K M ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c TUFTS MEDICAL CENTER   (United States)

Author keywords

Brain; Children; Development; Dopaminergic; Neurons; TorsinA

Indexed keywords

PROTEIN; TORSIN A; UNCLASSIFIED DRUG;

ARTICLE; BASAL GANGLION; BRAIN DEVELOPMENT; BRAIN REGION; CEREBELLUM; CHILD; CONTROLLED STUDY; DOPAMINERGIC NERVE CELL; FEMALE; FETUS; HIPPOCAMPUS; HUMAN; HUMAN TISSUE; IMMUNOREACTIVITY; INFANT; MALE; MYELINATION; PERINATAL PERIOD; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PURKINJE CELL; REGULATORY MECHANISM; SUBSTANTIA NIGRA;

ADULT; AUTORADIOGRAPHY; BLOTTING, WESTERN; BRAIN; CHILD; CHILD, PRESCHOOL; DOPAMINE; FEMALE; FETUS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GESTATIONAL AGE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; NEURONS; POLYMERASE CHAIN REACTION;

RODENTIA;

EID: 20444433591     PISSN: 01653806     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.devbrainres.2005.02.019     Document Type: Article

References (32)

1. S.J. Augood, D.M. Martin, L.J. Ozelius, X.O. Breakefield, J.B.J. Penney, and D.G. Standaert Distribution of the mRNAs encoding torsinA and torsinB in the adult human brain Ann. Neurol. 46 1999 761 769
2. S.J. Augood, Z. Hollginsworth, D. Albers, L. Yang, J. Leung, B. Muller, C. Klein, X.O. Breakefield, and D. Standaert Dopamine transmission in DYT1 dystonia: a biochemical and autoradiographical study Neurology 59 2002 445 448
3. S.J. Augood, C.E. Keller-McGandy, A. Siriani, J. Hewett, V. Ramesh, E. Sapp, M. DiFiglia, X.O. Breakefield, and D.G. Standaert Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain Brain Res. 986 2003 12 21
4. D.C. Bragg, S.M. Camp, C.A. Kaufman, J.D. Wilbur, H. Boston, D.E. Schuback, P.I. Hanson, M. Sena-Esteves, and X.O. Breakefield Perinuclear biogenesis of mutant torsinA inclusions in cultured cells infected with tetracycline-regulated herpes simplex virus type 1 amplicon vectors Neuroscience 125 2004 651 661
5. X.O. Breakefield, C. Kamm, and P.I. Hanson TorsinA: movement at many levels Neuron 31 2001 9 12
6. S.B. Bressman, D. de Leon, M.F. Brin, N. Risch, R.E. Burke, P.E. Greene, M. Shale, and S. Fahn Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance Ann. Neurol. 26 1989 612 620
7. 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
8. G.A. Caldwell, S. Cao, E.G. Sexton, C.C. Gelwix, J.P. Bevel, and K.A. Caldwell Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins Hum. Mol. Genet. 12 2003 307 319
9. M.R. Ghilardi, M. Carbon, G. Silvestri, V. Dhawan, M. Tagliati, S. Bressman, C. Ghez, and D. Eidelberg Impaired sequence learning in carriers of the DYT1 dystonia mutation Ann. Neurol. 54 2003 102 109
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. 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
13. 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
14. J. Hewett, C. Kamm, H. Boston, R. Beauchamp, T. Naismith, L. Ozelius, P.I. Hanson, X.O. Breakefield, and V. Ramesh TorsinB-Perinuclear location and association with torsinA J. Neurochem. 89 2004 1186 1194
15. M.V. Johnston Clinical disorders of brain plasticity Brain Dev. 26 2004 73 80
16. 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
17. C. Klein, J. Friedman, S. Bressman, P. Vieregge, M.F. Brin, P.P. Pramstaller, D. de Leon, J. Hagenah, M. Sieberer, C. Fleet, R. Kiely, W. Xin, X.O. Breakefield, L.J. Ozelius, and K.B. Sims Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects Genet. Test. 3 1999 323 328
18. 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
19. D.N. Louis, A. von Deimling, and B.R. Seizinger A (CA)n dinucleotide repeat assay for evaluating loss of allelic heterozygosity in small and archival human brain tumor specimens Am. J. Pathol. 141 1992 777 782
20. P.J. McLean, H. Kawamata, S. Shariff, J. Hewett, N. Sharma, K. Ueda, X.O. Breakefield, and B.T. Hyman TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregation J. Neurochem. 83 2002 846 854
21. S.H. Mostofsky, P.A. Blasco, I.J. Butler, and W.B. Dobyns Autosomal dominant torsion dystonia with onset in infancy Pediatr. Neurol. 15 1996 245 248
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. T. Ogura, and A.J. Wilkinson AAA+ superfamily ATPases: common structure-diverse function Genes Cells 6 2001 575 597
25. L. Ozelius, P.L. Kramer, C.B. Moskowitz, D.J. Kwiatkowski, M.F. Brin, S.B. Bressman, D.E. Schuback, C.T. Falk, N. Risch, D. de Leon, R.E. Burke, J. Haines, J.F. Gusella, S. Fahn, and X.O. Breakefield Human gene for torsion dystonia located on chromosome 9q32-q34 Neuron 2 1989 1427 1434
26. 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
27. K. Rostasy, S.J. Augood, J.W. Hewett, J.C. Leung, H. Sasaki, L.J. Ozelius, V. Ramesh, D.G. Standaert, X.O. Breakefield, and J.C. Hedreen TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion Neurobiol. Dis. 12 2003 11 24
28. N. Sharma, J. Hewett, L.J. Ozelius, V. Ramesh, P.J. McLean, X.O. Breakefield, and B.T. Hyman A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study Am. J. Pathol. 159 2001 339 344
29. P. Shashidharan, P.F. Good, A. Hsu, D.P. Perl, M.F. Brin, and C.W. Olanow TorsinA accumulation in Lewy bodies in sporadic Parkinson's disease Brain Res. 877 2000 379 381
30. P. Shashidharan, B.C. Kramer, R. Walker, C.W. Olanow, and M.F. Brin Immunohistochemical localization and distribution of torsinA in normal human and rat brain Brain Res. 853 2000 197 206
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. R.D. Vale AAA proteins: lords of the ring J. Cell Biol. 150 2000 F13 F19