Gene Review:
TOR1A - torsin family 1, member A (torsin A)
Homo sapiens
Synonyms:
DQ2, DYT1, Dystonia 1 protein, TA, TORA, ...
Klein,
Ozelius,
Ozelius,
Hewett,
Page,
Bressman,
Kramer,
Shalish,
de Leon,
Brin,
Raymond,
Corey,
Fahn,
Risch,
Buckler,
Gusella,
Breakefield,
McNaught,
Kapustin,
Jackson,
Jengelley,
Jnobaptiste,
Shashidharan,
Perl,
Pasik,
Olanow,
van Hilten,
van de Beek,
Hoff,
Voormolen,
Delhaas,
Saunders-Pullman,
Shriberg,
Heiman,
Raymond,
Wendt,
Kramer,
Schilling,
Kurlan,
Klein,
Ozelius,
Risch,
Bressman,
Bragg,
Kaufman,
Kock,
Breakefield,
Shashidharan,
Kramer,
Walker,
Olanow,
Brin,
O'Riordan,
Ozelius,
de Carvalho Aguiar,
Hutchinson,
King,
Lynch,
Simon,
Friedman,
Breakefield,
Jankovic,
Brin,
Provias,
Bressman,
Charness,
Tarsy,
Johns,
Tarnopolsky,
- The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Ozelius, L.J., Page, C.E., Klein, C., Hewett, J.W., Mineta, M., Leung, J., Shalish, C., Bressman, S.B., de Leon, D., Brin, M.F., Fahn, S., Corey, D.P., Breakefield, X.O. Genomics (1999)
- Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Zimprich, A., Grabowski, M., Asmus, F., Naumann, M., Berg, D., Bertram, M., Scheidtmann, K., Kern, P., Winkelmann, J., Müller-Myhsok, B., Riedel, L., Bauer, M., Müller, T., Castro, M., Meitinger, T., Strom, T.M., Gasser, T. Nat. Genet. (2001)
- Regional metabolism in primary torsion dystonia: effects of penetrance and genotype. Carbon, M., Su, S., Dhawan, V., Raymond, D., Bressman, S., Eidelberg, D. Neurology (2004)
- 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)
- Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Goodchild, R.E., Dauer, W.T. Proc. Natl. Acad. Sci. U.S.A. (2004)
- Brainstem pathology in DYT1 primary torsion dystonia. McNaught, K.S., Kapustin, A., Jackson, T., Jengelley, T.A., Jnobaptiste, R., Shashidharan, P., Perl, D.P., Pasik, P., Olanow, C.W. Ann. Neurol. (2004)
- Increased risk for recurrent major depression in DYT1 dystonia mutation carriers. Heiman, G.A., Ottman, R., Saunders-Pullman, R.J., Ozelius, L.J., Risch, N.J., Bressman, S.B. Neurology (2004)
- Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence. Saunders-Pullman, R., Shriberg, J., Heiman, G., Raymond, D., Wendt, K., Kramer, P., Schilling, K., Kurlan, R., Klein, C., Ozelius, L.J., Risch, N.J., Bressman, S.B. Neurology (2002)
- Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies. Neumann, M., Adler, S., Schlüter, O., Kremmer, E., Benecke, R., Kretzschmar, H.A. Acta Neuropathol. (2000)
- A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Jin, H., May, M., Tranebjaerg, L., Kendall, E., Fontán, G., Jackson, J., Subramony, S.H., Arena, F., Lubs, H., Smith, S., Stevenson, R., Schwartz, C., Vetrie, D. Nat. Genet. (1996)
- Molecular basis of celiac disease. Sollid, L.M. Annu. Rev. Immunol. (2000)
- Transplantation of embryonic dopamine neurons for severe Parkinson's disease. Freed, C.R., Greene, P.E., Breeze, R.E., Tsai, W.Y., DuMouchel, W., Kao, R., Dillon, S., Winfield, H., Culver, S., Trojanowski, J.Q., Eidelberg, D., Fahn, S. N. Engl. J. Med. (2001)
- Intrathecal baclofen for the treatment of dystonia in patients with reflex sympathetic dystrophy. van Hilten, B.J., van de Beek, W.J., Hoff, J.I., Voormolen, J.H., Delhaas, E.M. N. Engl. J. Med. (2000)
- 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)
- Impaired sequence learning in carriers of the DYT1 dystonia mutation. Ghilardi, M.F., Carbon, M., Silvestri, G., Dhawan, V., Tagliati, M., Bressman, S., Ghez, C., Eidelberg, D. Ann. Neurol. (2003)
- Inhibition of N-linked glycosylation prevents inclusion formation by the dystonia-related mutant form of torsinA. Bragg, D.C., Kaufman, C.A., Kock, N., Breakefield, X.O. Mol. Cell. Neurosci. (2004)
- Cellular distribution of torsin A and torsin B in normal human brain. Konakova, M., Huynh, D.P., Yong, W., Pulst, S.M. Arch. Neurol. (2001)
- Perinuclear biogenesis of mutant torsin-A inclusions in cultured cells infected with tetracycline-regulated herpes simplex virus type 1 amplicon vectors. Bragg, D.C., Camp, S.M., Kaufman, C.A., Wilbur, J.D., Boston, H., Schuback, D.E., Hanson, P.I., Sena-Esteves, M., Breakefield, X.O. Neuroscience (2004)
- Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. Kamm, C., Asmus, F., Mueller, J., Mayer, P., Sharma, M., Muller, U.J., Beckert, S., Ehling, R., Illig, T., Wichmann, H.E., Poewe, W., Mueller, J.C., Gasser, T. Neurology (2006)
- Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant. Torres, G.E., Sweeney, A.L., Beaulieu, J.M., Shashidharan, P., Caron, M.G. Proc. Natl. Acad. Sci. U.S.A. (2004)
- Expression of the early-onset torsion dystonia gene (DYT1) in human brain. Augood, S.J., Penney, J.B., Friberg, I.K., Breakefield, X.O., Young, A.B., Ozelius, L.J., Standaert, D.G. Ann. Neurol. (1998)
- Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. Kustedjo, K., Bracey, M.H., Cravatt, B.F. J. Biol. Chem. (2000)
- Dystonia: clinical features, genetics, and treatment. Klein, C., Ozelius, L.J. Curr. Opin. Neurol. (2002)
- Immunohistochemical localization and distribution of torsinA in normal human and rat brain. Shashidharan, P., Kramer, B.C., Walker, R.H., Olanow, C.W., Brin, M.F. Brain Res. (2000)
- Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy. Carelli, V., Ghelli, A., Bucchi, L., Montagna, P., De Negri, A., Leuzzi, V., Carducci, C., Lenaz, G., Lugaresi, E., Degli Esposti, M. Ann. Neurol. (1999)
- A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia. Simon, D.K., Friedman, J., Breakefield, X.O., Jankovic, J., Brin, M.F., Provias, J., Bressman, S.B., Charness, M.E., Tarsy, D., Johns, D.R., Tarnopolsky, M.A. Neurogenetics (2003)
- VMAT2 binding is elevated in dopa-responsive dystonia: visualizing empty vesicles by PET. De La Fuente-Fernández, R., Furtado, S., Guttman, M., Furukawa, Y., Lee, C.S., Calne, D.B., Ruth, T.J., Stoessl, A.J. Synapse (2003)
- D2 receptor binding in dopa-responsive dystonia. Künig, G., Leenders, K.L., Antonini, A., Vontobel, P., Weindl, A., Meinck, H.M. Ann. Neurol. (1998)
- Tyrosine hydroxylase immunoreactivity and [3H]WIN 35,428 binding to the dopamine transporter in a hamster model of idiopathic paroxysmal dystonia. Nobrega, J.N., Gernert, M., Löscher, W., Raymond, R., Belej, T., Richter, A. Neuroscience (1999)
- Molecular characterization of HLA class II genes in celiac disease patients of Latin American Caucasian origin. Herrera, M., Theiler, G., Augustovski, F., Chertkoff, L., Fainboim, L., DeRosa, S., Cowan, E.P., Satz, M.L. Tissue Antigens (1994)
- A genetically controlled pairing anomaly between HLA-DQ alpha and HLA-DQ beta chains. Kwok, W.W., Thurtle, P., Nepom, G.T. J. Immunol. (1989)
- Normal values and age-dependent changes in GTP cyclohydrolase I activity in stimulated mononuclear blood cells measured by high-performance liquid chromatography. Hibiya, M., Ichinose, H., Ozaki, N., Fujita, K., Nishimoto, T., Yoshikawa, T., Asano, Y., Nagatsu, T. J. Chromatogr. B Biomed. Sci. Appl. (2000)
- Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Guerrini, R., Bonanni, P., Nardocci, N., Parmeggiani, L., Piccirilli, M., De Fusco, M., Aridon, P., Ballabio, A., Carrozzo, R., Casari, G. Ann. Neurol. (1999)
- Altered expression of preproenkephalin and prodynorphin mRNA in a genetic model of paroxysmal dystonia. Nobrega, J.N., Parkes, J.H., Wong, P., Raymond, R., Richter, A. Brain Res. (2004)
- Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. Valente, E.M., Bentivoglio, A.R., Cassetta, E., Dixon, P.H., Davis, M.B., Ferraris, A., Ialongo, T., Frontali, M., Wood, N.W., Albanese, A. Neurol. Sci. (2001)
- Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family. Holmgren, G., Ozelius, L., Forsgren, L., Almay, B.G., Holmberg, M., Kramer, P., Fahn, S., Breakefield, X.O. J. Neurol. Neurosurg. Psychiatr. (1995)
- One-Hz repetitive transcranial magnetic stimulation of the premotor cortex alters reciprocal inhibition in DYT1 dystonia. Huang, Y.Z., Edwards, M.J., Bhatia, K.P., Rothwell, J.C. Mov. Disord. (2004)
- Inherited myoclonus-dystonia and epilepsy: further evidence of an association? O'Riordan, S., Ozelius, L.J., de Carvalho Aguiar, P., Hutchinson, M., King, M., Lynch, T. Mov. Disord. (2004)