Expression of the early onset torsion dystonia gene (DYT1) in human brain

Annals of Neurology

Volumn 43, Issue 5, 1998, Pages 669-673

  Augood, Sarah J ^a   Penney Jr , John B ^a   Friberg, Ingrid K ^a   Breakefield, Xandra O ^a   Young, Anne B ^a   Ozelius, Laurie J ^a   Standaert, David G ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

ADULT; AGED; ARTICLE; CEREBELLUM; CHROMOSOME 9Q; DOPAMINERGIC NERVE CELL; FEMALE; GENE DELETION; GENE EXPRESSION; HIPPOCAMPUS; HUMAN; HUMAN TISSUE; MALE; NORMAL HUMAN; PRIORITY JOURNAL; SUBSTANTIA NIGRA; TORSION DYSTONIA;

AGE OF ONSET; AGED; BASAL GANGLIA; BRAIN CHEMISTRY; CARRIER PROTEINS; DYSTONIA MUSCULORUM DEFORMANS; FEMALE; GENE EXPRESSION; HIPPOCAMPUS; HUMANS; IN SITU HYBRIDIZATION; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; RNA PROBES; RNA, MESSENGER; SUBSTANTIA NIGRA; TRANSCRIPTION, GENETIC;

EID: 0031956142     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410430518     Document Type: Article

References (16)

1. Ozelius, L, Hewett, JW, Page, CE, et al. The early onset torsion dystonia gene (DYTI) encodes an ATP-binding protein. Nat Genet 1997;17:40-48
2. Ozelius LJ, Bressman SB, Kramer PL, et al. Early-onset, generalized dystonia caused by the DYT1 gene on chromosome 9q34. In: Segawa M, Nomura Y, eds. Age-related dopamine-dependent disorders. Basel: Karger, 1995:126-132
3. Kramer PL, De Leon D, Ozelius L, et al. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Ann Neurol 1990;27:114-120
4. Ozelius L, Kramer PL, Moskowitz CB, et al. Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 1989;2:1427-1434
5. Vonsattel JP, Aizawa H, Ge P, et al. An improved approach to prepare human brains for research. J Neuropathol Exp Neurol 1995;54:42-56
6. Kingsbury AE, Foster OJF, Nisbet AP, et al. Tissue pH as an indicator of mRNA preservation in human post-mortem brain. Mol Brain Res 1995;28:311-318
7. Standaert DG, Landwehrmeyer GB, Kerner JA, et al. Expression of NMDAR2D glutamate receptor subunit mRNA in neurochemically identified interneurons in the rat neostriatum, neocortex, and hippocampus. Mol Brain Res 1996;42: 89-102
8. Landwehrmeyer GB, McNeil SM, Dure LS, et al. Huntington's disease gene: regional and cellular expression in brain of normal and affected individuals. Ann Neurol 1995;37: 218-230
9. Klawans HL. The pathophysiology of drug-induced movement disorders. In: Jankovic J, Tolosa E, eds. Parkinson's disease and movement disorders. Baltimore: Urban & Schwarzen berg, 1988:315-326
10. Knappskog P, Flatmark T, Mallet J, et al. Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995;4:1209-1212
11. 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
12. Parsell D, Lindquist S. The function of heat-shock proteins in stress tolerance: degradation and reactivation of damaged proteins. Ann Rev Genet 1993;27:437-496
13. Schirmer EC, Glover JR, Singer MA, et al. HSP100/Clp proteins: a common mechanism explains diverse functions. Trends Biochem 1996;21:289-296
14. DeBello WM, O'Connor V, Dresbach T, et al. SNAP-mediated protein-protein interactions essential for neurotransmitter release. Nature 1995;373:626-630
15. Nakai M, Endo T, Hase T, et al. Intramitochondrial protein sorting. J Biol Chem 1993;268:24262-24269
16. Sollner T, Whiteheart SW, Brunner M, et al. SNAP receptors implicated in vesicle targeting and fusion. Nature 1993;362: 318-324