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DYT3  -  dystonia 3 (with Parkinsonism)

Homo sapiens

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Disease relevance of DYT3

  • The X chromosome-linked dystonia-parkinsonism syndrome (XDP) is a severe movement disorder, characterized by both dystonia and parkinsonism [1].
  • Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism [2].
  • Over this 2 hr period, 10 of 24 patients (responders) demonstrated 25% or greater improvement in the extent of pulmonary artery thrombus as quantified by Urokinase Pulmonary Embolism Trial score, and these patients were found to have a significantly lower XDP/FDP ratio after rt-PA (p less than .04) than those patients who failed to respond [3].
  • Elevated serum D dimer: a degradation product of cross-linked fibrin (XDP) after intravenous streptokinase during acute myocardial infarction [4].
  • METHODS: The aim of this study was to determine whether DIC is part of the coagulopathy of cirrhosis by applying quantitative tests for prothrombin fragment 1 + 2, antithrombin III, thrombin-antithrombin complex, and specific fribrinogen degradation products levels (XDP), as well as the thrombelastograph for detecting the Clot Lysis Index [5].

Psychiatry related information on DYT3

  • RESULTS: Patients with Binswanger disease who were exclusively at deteriorating stages showed increased TAT and XDP levels and an increased ventricular area-cranial space area ratio, as compared with the patients with other neurological diseases (P<.001) [6].

High impact information on DYT3


Chemical compound and disease context of DYT3

  • The degree of XDP elevation over normal values was significantly higher than that of FDP in conditions with a propensity for venous thrombosis (post-operative states, disseminated neoplasia and inflammatory diseases) than in liver disease, localized neoplasia or patients receiving heparin therapy for venous thromboembolism [9].
  • The D136N mutant of Rab5, which was predicted to switch specificity from guanine to xanthine nucleotides, was expressed in E. coli, extracted with urea, purified by column chromatography, and refolded by stepwise dialysis against buffer containing XDP [10].

Biological context of DYT3

  • The disease locus, DYT3, has been assigned to the proximal long arm (Xq12-21.1) of the human X chromosome [11].
  • AFX1 and p54nrb were excluded as candidates of DYT3 by sequencing of the exons and the flanking intronic sequences in an XDP patient and a control, and by Northern blot analysis [12].
  • Linkage analysis was performed with DNA from 14 XDP kindreds by using 12 polymorphic DNA sequences in Xp11-Xq22 [8].
  • Three affected siblings were found to share an identical haplotype at the X-linked dystonia-parkinsonism locus (XDP; Lubag; OMIM*314250) [13].
  • XDP, which is endemic to the Philippine island of Panay, originated by a single mutation ("genetic founder effect"), thus assuring homogeneity of the disorder at the molecular level [11].

Anatomical context of DYT3

  • In search for the anatomical basis for dystonia, we performed postmortem analyses of the functional anatomy of the basal ganglia based on the striatal compartments (ie, the striosomes and the matrix compartment) in XDP [14].
  • Here, we provide anatomopathological evidence that, in the XDP neostriatum, the matrix compartment is relatively spared in a unique fashion, whereas the striosomes are severely depleted [14].
  • Neuropathology of one case showed a mosaic pattern of neuronal loss and gliosis in the caudate and putamen suggesting that this pattern is not restricted to XDP or Lubag [15].
  • Our results indicate that GE-XDP is a potentially useful marker for the diagnosis of DVT, suggesting that granulocytes are activated in patients with DVT [16].
  • Immunoadsorption with anti-albumin followed by Westernblotting with anti-fibrinogen-demonstrated the existence of XDP/albumin-associates in ascitic fluid [17].

Associations of DYT3 with chemical compounds

  • We have evaluated a preparation of latex particles coupled to the monoclonal antibody DD-3B6/22, which is specific for cross-linked fibrin degradation products (XDP) and allows accurate discrimination between normal and pathological conditions [18].
  • However, XMP, XDP, and XTP stimulated thymidine incorporation [19].
  • Under standardized conditions the nucleotide specificity was ADP greater than dADP greater than IDP greater than GDP greater than UDP greater than XDP in the reverse reaction [20].

Other interactions of DYT3


Analytical, diagnostic and therapeutic context of DYT3

  • We have developed a two-step enzyme immunoassay (EIA) that allows the quantitation of degradation products derived from fibrinogen (FbgDP) and that does not detect degradation products derived from cross-linked (XDP) or noncrosslinked fibrin (fdp) [21].
  • Plasma crosslinked fibrin D-dimer fragments (XDP) measured by ELISA as indicators of coagulation activity were lower compared to pretreatment levels in 9 of 10 samples drawn when symptoms were improved on PTF, whereas they were increased in 6 of 9 samples drawn when symptoms were worse or unchanged [22].
  • Plasma concentrations of granulocyte elastase derived-XDP (GE-XDP) levels correlated with d-dimer levels during chemotherapy in patients with malignant lymphoma, suggesting that the elevated d-dimer is fibrin products degraded by granulocyte elastase [23].
  • Elevation of crosslinked fibrin degradation products (XDP), determined by the SimpliRED D-dimer test, correlated in four out of five premature infants with the diagnosis of IVH by ultrasonography [24].
  • These results suggest that simultaneous measurements of XDP and plasmin-alpha 2PI complex in plasma would be valuable for the pharmacological or hemostatic assessment of thrombolytic therapy [25].


  1. Delineation of the dystonia-parkinsonism syndrome locus in Xq13. Graeber, M.B., Kupke, K.G., Müller, U. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  2. Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. Nolte, D., Niemann, S., Müller, U. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  3. Recombinant tissue plasminogen activator in patients with pulmonary embolism: correlation of fibrinolytic specificity and efficacy. Vaughan, D.E., Goldhaber, S.Z., Kim, J., Loscalzo, J. Circulation (1987) [Pubmed]
  4. Elevated serum D dimer: a degradation product of cross-linked fibrin (XDP) after intravenous streptokinase during acute myocardial infarction. Lew, A.S., Berberian, L., Cercek, B., Lee, S., Shah, P.K., Ganz, W. J. Am. Coll. Cardiol. (1986) [Pubmed]
  5. Disseminated intravascular coagulation in liver cirrhosis: fact or fiction? Ben-Ari, Z., Osman, E., Hutton, R.A., Burroughs, A.K. Am. J. Gastroenterol. (1999) [Pubmed]
  6. The coagulation-fibrinolysis system in patients with leukoaraiosis and Binswanger disease. Tomimoto, H., Akiguchi, I., Ohtani, R., Yagi, H., Kanda, M., Shibasaki, H., Yamamoto, Y. Arch. Neurol. (2001) [Pubmed]
  7. Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1. Haberhausen, G., Schmitt, I., Köhler, A., Peters, U., Rider, S., Chelly, J., Terwilliger, J.D., Monaco, A.P., Müller, U. Am. J. Hum. Genet. (1995) [Pubmed]
  8. Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1. Kupke, K.G., Graeber, M.B., Müller, U. Am. J. Hum. Genet. (1992) [Pubmed]
  9. Serum crosslinked fibrin (XDP) and fibrinogen/fibrin degradation products (FDP) in disorders associated with activation of the coagulation or fibrinolytic systems. Hunt, F.A., Rylatt, D.B., Hart, R.A., Bundesen, P.G. Br. J. Haematol. (1985) [Pubmed]
  10. Functional and structural interactions of the Rab5 D136N mutant with xanthine nucleotides. Hoffenberg, S., Nikolova, L., Pan, J.Y., Daniel, D.S., Wessling-Resnick, M., Knoll, B.J., Dickey, B.F. Biochem. Biophys. Res. Commun. (1995) [Pubmed]
  11. The X-linked dystonia-parkinsonism syndrome (XDP): clinical and molecular genetic analysis. Graeber, M.B., Müller, U. Brain Pathol. (1992) [Pubmed]
  12. AFX1 and p54nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism. Peters, U., Haberhausen, G., Kostrzewa, M., Nolte, D., Müller, U. Hum. Genet. (1997) [Pubmed]
  13. A novel family with an unusual early-onset generalized dystonia. Fabbrini, G., Brancati, F., Vacca, L., Valente, E.M., Nemeth, A., Meesaq, A., Sykes, N., Dallapiccola, B., Berardelli, A. Mov. Disord. (2005) [Pubmed]
  14. Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism. Goto, S., Lee, L.V., Munoz, E.L., Tooyama, I., Tamiya, G., Makino, S., Ando, S., Dantes, M.B., Yamada, K., Matsumoto, S., Shimazu, H., Kuratsu, J., Hirano, A., Kaji, R. Ann. Neurol. (2005) [Pubmed]
  15. X-linked Dystonia-Deafness syndrome. Hayes, M.W., Ouvrier, R.A., Evans, W., Somerville, E., Morris, J.G. Mov. Disord. (1998) [Pubmed]
  16. Elevated plasma levels of fibrin degradation products by granulocyte-derived elastase in patients with deep vein thrombosis. Kamikura, Y., Wada, H., Nobori, T., Matsumoto, T., Shiku, H., Ishikura, K., Yamada, N., Nakano, T., Kazahaya, Y., Sawai, T., Matsuda, M. Thromb. Res. (2005) [Pubmed]
  17. Fibrinolysis in ascitic fluid: isolation and characterization of fibrin derivatives, their interaction with albumin. Wilhelm, O., Hafter, R., Graeff, H. Thromb. Res. (1987) [Pubmed]
  18. A latex agglutination assay for D dimer: evaluation and application to the diagnosis of thrombotic disease. Hillyard, C.J., Blake, A.S., Wilson, K., Rylatt, D.B., Miles, S., Bunch, R., Elms, M.J., Barnes, A., Bundesen, P.G. Clin. Chem. (1987) [Pubmed]
  19. Stimulation of astrocyte proliferation by purine and pyrimidine nucleotides and nucleosides. Christjanson, L.J., Middlemiss, P.J., Rathbone, M.P. Glia (1993) [Pubmed]
  20. Some properties of human skeletal muscle creatine kinase. Lee, C.S., Nicholson, G.A., O'Sullivan, W.J. Aust. J. Biol. Sci. (1977) [Pubmed]
  21. A quantitative enzyme immunoassay for primary fibrinogenolysis products in plasma. Koppert, P.W., Kuipers, W., Hoegee-de Nobel, B., Brommer, E.J., Koopman, J., Nieuwenhuizen, W. Thromb. Haemost. (1987) [Pubmed]
  22. Anti-inflammatory effects of pentoxifylline in claudication. Currie, M.S., Simel, D.L., Christenson, R.H., Holmes, C., Crawford, J., Cohen, H.J., Rao, K.M. Am. J. Med. Sci. (1991) [Pubmed]
  23. Hemostatic abnormalities and leukocyte activation caused by infection in patients with malignant lymphoma during chemotherapy. Kamikura, Y., Wada, H., Sase, T., Yamaguchi, M., Kaneko, T., Sakaguchi, A., Abe, Y., Nishioka, J., Nobori, T., Shiku, H. Thromb. Res. (2006) [Pubmed]
  24. Intraventricular haemorrhage in preterm infants: evidence of suppressed fibrinolysis. Chen, J.P., Lorch, V. Blood Coagul. Fibrinolysis (1996) [Pubmed]
  25. Evaluation of fibrinolytic therapy by measuring cross-linked fibrin derivatives and plasmin-alpha 2-plasmin inhibitor complex in plasma. Takahashi, H., Takizawa, S., Hanano, M., Tatewaki, W., Nagasaki, Y., Sasagawa, Y., Shibata, A. Tohoku J. Exp. Med. (1987) [Pubmed]
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