Gene Review:
GCH1 - GTP cyclohydrolase 1
Homo sapiens
Synonyms:
DYT14, DYT5, DYT5a, GCH, GTP cyclohydrolase I, ...
- Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion. Weber, Y., Steinberger, D., Deuschl, G., Benecke, R., Müller, U. Neurogenetics (1997)
- GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. Jarman, P.R., Bandmann, O., Marsden, C.D., Wood, N.W. J. Neurol. Neurosurg. Psychiatr. (1997)
- Molecular genetics of dopa-responsive dystonia. Ichinose, H., Suzuki, T., Inagaki, H., Ohye, T., Nagatsu, T. Biol. Chem. (1999)
- Dopa-responsive dystonia: a clinical and molecular genetic study. Bandmann, O., Valente, E.M., Holmans, P., Surtees, R.A., Walters, J.H., Wevers, R.A., Marsden, C.D., Wood, N.W. Ann. Neurol. (1998)
- Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin. Nagatsu, T., Ichinose, H. Mol. Neurobiol. (1999)
- Dopa-responsive dystonia and Tourette syndrome in a large Danish family. Romstad, A., Dupont, E., Krag-Olsen, B., Østergaard, K., Guldberg, P., Güttler, F. Arch. Neurol. (2003)
- Regulation of 6-pyruvoyltetrahydropterin synthase activity and messenger RNA abundance in human vascular endothelial cells. Linscheid, P., Schaffner, A., Blau, N., Schoedon, G. Circulation (1998)
- Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Bandmann, O., Nygaard, T.G., Surtees, R., Marsden, C.D., Wood, N.W., Harding, A.E. Hum. Mol. Genet. (1996)
- Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Bouslam, N., Benomar, A., Azzedine, H., Bouhouche, A., Namekawa, M., Klebe, S., Charon, C., Durr, A., Ruberg, M., Brice, A., Yahyaoui, M., Stevanin, G. Ann. Neurol. (2005)
- Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystonia. Hwu, W.L., Lu, M.Y., Hwa, K.Y., Fan, S.W., Lee, Y.M. Ann. Neurol. (2004)
- Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Tassin, J., Dürr, A., Bonnet, A.M., Gil, R., Vidailhet, M., Lücking, C.B., Goas, J.Y., Durif, F., Abada, M., Echenne, B., Motte, J., Lagueny, A., Lacomblez, L., Jedynak, P., Bartholomé, B., Agid, Y., Brice, A. Brain (2000)
- Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia. Bezin, L., Nygaard, T.G., Neville, J.D., Shen, H., Levine, R.A. Neurology (1998)
- Viral restoration of dopamine to the nucleus accumbens is sufficient to induce a locomotor response to amphetamine. Heusner, C.L., Hnasko, T.S., Szczypka, M.S., Liu, Y., During, M.J., Palmiter, R.D. Brain Res. (2003)
- Decrease in tetrahydrobiopterin as a possible cause of nephropathy in type II diabetic rats. Okumura, M., Masada, M., Yoshida, Y., Shintaku, H., Hosoi, M., Okada, N., Konishi, Y., Morikawa, T., Miura, K., Imanishi, M. Kidney Int. (2006)
- Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group. Steinberger, D., Korinthenberg, R., Topka, H., Berghäuser, M., Wedde, R., Müller, U. Neurology (2000)
- A yeast 2-hybrid analysis of human GTP cyclohydrolase I protein interactions. Swick, L., Kapatos, G. J. Neurochem. (2006)
- Generation of human artificial chromosomes expressing naturally controlled guanosine triphosphate cyclohydrolase I gene. Ikeno, M., Inagaki, H., Nagata, K., Morita, M., Ichinose, H., Okazaki, T. Genes Cells (2002)
- Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia. Furukawa, Y., Kapatos, G., Haycock, J.W., Worsley, J., Wong, H., Kish, S.J., Nygaard, T.G. Ann. Neurol. (2002)
- Cytokine-stimulated GTP cyclohydrolase I expression in endothelial cells requires coordinated activation of nuclear factor-kappaB and Stat1/Stat3. Huang, A., Zhang, Y.Y., Chen, K., Hatakeyama, K., Keaney, J.F. Circ. Res. (2005)
- Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia. Furukawa, Y., Nygaard, T.G., Gütlich, M., Rajput, A.H., Pifl, C., DiStefano, L., Chang, L.J., Price, K., Shimadzu, M., Hornykiewicz, O., Haycock, J.W., Kish, S.J. Neurology (1999)
- The assays of activities and function of TH, AADC, and GCH1 and their potential use in ex vivo gene therapy of PD. Duan, C.L., Su, Y., Zhao, C.L., Lu, L.L., Xu, Q.Y., Yang, H. Brain Res. Brain Res. Protoc. (2005)
- Brain transplantation of human neural stem cells transduced with tyrosine hydroxylase and GTP cyclohydrolase 1 provides functional improvement in animal models of Parkinson disease. Kim, S.U., Park, I.H., Kim, T.H., Kim, K.S., Choi, H.B., Hong, S.H., Bang, J.H., Lee, M.A., Joo, I.S., Lee, C.S., Kim, Y.S. Neuropathology : official journal of the Japanese Society of Neuropathology. (2006)
- Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Furukawa, Y., Kish, S.J., Bebin, E.M., Jacobson, R.D., Fryburg, J.S., Wilson, W.G., Shimadzu, M., Hyland, K., Trugman, J.M. Ann. Neurol. (1998)
- Molecular biology of catecholamine-related enzymes in relation to Parkinson's disease. Nagatsu, T., Ichinose, H. Cell. Mol. Neurobiol. (1999)
- 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)
- Adeno-associated virus vector-mediated triple gene transfer of dopamine synthetic enzymes. Fan, D., Shen, Y., Kang, D., Nakano, I., Ozawa, K. Chin. Med. J. (2001)
- Localization of sepiapterin reductase in the human brain. Ikemoto, K., Suzuki, T., Ichinose, H., Ohye, T., Nishimura, A., Nishi, K., Nagatsu, I., Nagatsu, T. Brain Res. (2002)
- Regulation of inducible nitric oxide production by cytokines in human thyrocytes in culture. Kasai, K., Hattori, Y., Nakanishi, N., Manaka, K., Banba, N., Motohashi, S., Shimoda, S. Endocrinology (1995)
- Divergence in regulation of nitric-oxide synthase and its cofactor tetrahydrobiopterin by tumor necrosis factor-alpha. Ceramide potentiates nitric oxide synthesis without affecting GTP cyclohydrolase I activity. Vann, L.R., Twitty, S., Spiegel, S., Milstien, S. J. Biol. Chem. (2000)
- In vivo expression and function of recombinant GTPCH I in the rabbit carotid artery. Hynes, S.O., Smith, L.A., Richardson, D.M., Kovesdi, I., O'Brien, T., Katusic, Z.S. Am. J. Physiol. Heart Circ. Physiol. (2004)
- Genotypic and phenotypic characterization of Cryptosporidium parvum isolates from people with AIDS. Widmer, G., Tzipori, S., Fichtenbaum, C.J., Griffiths, J.K. J. Infect. Dis. (1998)