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| Literature 2009 |
| 1. |
Eudes, A., et al.(2009). "Identification of transport-critical residues in a folate transporter from the folate-biopterin transporter (FBT) family." J Biol Chem.
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| 2. |
Li, L., A. et al.(2009). "GTP Cyclohydrolase I Phosphorylation and Interaction With GTP Cyclohydrolase Feedback Regulatory Protein Provide Novel Regulation of Endothelial Tetrahydrobiopterin and Nitric Oxide." Circ Res.
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| 3. |
Zhu, T., S. Qin, J. Ye, W. Qiu, L. Han, Y. Zhang and X. Gu (2009). "Mutational spectrum of Phenylketonuria in the Chinese Han population: A novel insight into the geographic distribution of the common mutations." Pediatr Res. Epub ahead of press
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| 4. |
Schmidt, K., M. Rehn, H. Stessel, G. Wolkart and B. Mayer (2009). "Evidence against tetrahydrobiopterin depletion of vascular tissue exposed to nitric oxide/superoxide or nitroglycerin." Free Radic Biol Med. Epub ahead of press
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| 5. |
Gibbons, S. E., I. Stayton and Y. Ma (2009). "Optimization of urinary pteridine analysis conditions by CE-LIF for clinical use in early cancer detection." Electrophoresis 30(20): 3591-3597.
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| 6. |
Hasselmann, O., N. Blau, V. T. Ramaekers, E. V. Quadros, J. M. Sequeira and M. Weissert (2009). "Cerebral folate deficiency and CNS inflammatory markers in Alpers disease." Mol Genet Metab. Epub ahead of press
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| 7. |
Du, J., N. Wei, H. Xu, Y. Ge, J. Vasquez-Vivar, T. Guan, K. T. Oldham, K. A. Pritchard, Jr. and Y. Shi (2009). "Identification and Functional Characterization of Phosphorylation Sites on GTP Cyclohydrolase I." Arterioscler Thromb Vasc Biol.
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| 8. |
Garcia-Molina, F., J. L. Munoz-Munoz, J. R. Acosta, P. A. Garcia-Ruiz, J. Tudela, F. Garcia-Canovas and J. N. Rodriguez-Lopez (2009). "Melanogenesis inhibition by tetrahydropterines." Biochim Biophys Acta. Epub ahead of press
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| 9. |
Porta, F., A. Mussa, D. Concolino, M. Spada and A. Ponzone (2009). "Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency." Neurology 73(8): 633-7.
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| 10. |
An, J., J. Du, N. Wei, H. Xu, K. A. Pritchard and Y. Shi (2009). "Role of Tetrahydrobiopterin in Resistance to Myocardial Ischemia in Brown Norway and Dahl S Rats." Am J Physiol Heart Circ Physiol. Epub ahead of press.
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| 11. |
Santillan, D. A., M. K. Santillan and S. K. Hunter (2009). "Cell encapsulation as a potential nondietary therapy for maternal phenylketonuria." Am J Obstet Gynecol. Epub ahead of press
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| 12. |
Stojiljkovic, M., B. Perez, L. R. Desviat, C. Aguado, M. Ugarte and S. Pavlovic (2009). "The Missense p.S231F Phenylalanine Hydroxylase Gene Mutation Causes Complete Loss of Enzymatic Activity In Vitro." Protein J. Epub ahead of press
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| 13. |
Sanford, M. and G. M. Keating (2009). "Spotlight on sapropterin in primary hyperphenylalaninemiadagger." BioDrugs 23(3): 201-2.
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| 14. |
Vasquez-Vivar, J. (2009). "Tetrahydrobiopterin, Superoxide and Vascular Dysfunction." Free Radic Biol Med. Epub ahead of press
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| 15. |
Vasquez-Vivar, J. (2009). "Tetrahydrobiopterin, Superoxide and Vascular Dysfunction." Free Radic Biol Med. Epub ahead of press
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| 16. |
Canada-Canada, F., A. Espinosa-Mansilla, A. Munoz de la Pena and A. Mancha de Llanos (2009). "Determination of marker pteridins and biopterin reduced forms, tetrahydrobiopterin and dihydrobiopterin, in human urine, using a post-column photoinduced fluorescence liquid chromatographic derivatization method." Anal Chim Acta 648(1): 113-22.
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| 17. |
Pall, M. L. (2009). "Do sauna therapy and exercise act by raising the availability of tetrahydrobiopterin?" Med Hypotheses. Epub ahead of press
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| 18. |
Gunasekera, R. S. and K. Hyland (2009). "In vivo regulation of phenylalanine hydroxylase in the genetic mutant hph-1 mouse model." Mol Genet Metab. Epub ahead of press
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| 19. |
Bardien, S., R. Keyser, D. Lombard, M. du Plessis, H. Human and J. Carr (2009). "Novel non-sense GCH1 mutation in a South African family diagnosed with dopa-responsive dystonia." Eur J Neurol. Epub ahead of press
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| 20. |
Wider, C., S. Lincoln, J. C. Dachsel, G. Kapatos, M. G. Heckman, N. N. Diehl, S. Papapetropoulos, D. Mash, A. Rajput, A. H. Rajput, D. W. Dickson, Z. K. Wszolek and M. J. Farrer (2009). "GCH1 expression in human cerebellum from healthy individuals is not gender dependant." Neurosci Lett. Epub ahead of press
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| 21. |
Gunasekera, R. S. and K. Hyland (2009). "In vivo regulation of phenylalanine hydroxylase in the genetic mutant hph-1 mouse model." Mol Genet Metab. Epub ahead of press
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| 22. |
Avanzas, P. and J. C. Kaski (2009). "Neopterin for risk assessment in angina pectoris." Drug News Perspect 22(4): 215-9.
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| 23. |
Du, J., N. Wei, T. Guan, H. Xu, J. An, K. A. Pritchard and Y. Shi (2009). "Inhibition of CDKs by roscovitine suppressed LPS-induced *NO production through inhibiting NF{kappa}B activation and BH4 biosynthesis in macrophages." Am J Physiol Cell Physiol. Epub ahead of press
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| 24. |
Meili, D., J. Kralovicova, J. Zagalak, L. Bonafe, L. Fiori, N. Blau, B. Thony and I. Vorechovsky (2009). "Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail." Hum Mutat 30(5): 823-31.
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| 25. |
Karacic, I., D. Meili, V. Sarnavka, C. Heintz, B. Thony, D. P. Ramadza, K. Fumic, D. Mardesic, I. Baric and N. Blau (2009). "Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency." Mol Genet Metab 97(3): 165-71.
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| 26. |
Lang, J. A., L. A. Holowatz and W. L. Kenney (2009). "Local Tetrahydrobiopterin Administration Augments Cutaneous Vasoconstriction in Aged Humans." J Physiol.
Epub ahead of press
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| 27. |
Clot, F., D. Grabli, C. Cazeneuve, E. Roze, P. Castelnau, B. Chabrol, P. Landrieu, K. Nguyen, G. Ponsot, M. Abada, D. Doummar, P. Damier, R. Gil, S. Thobois, A. J. Ward, M. Hutchinson, A. Toutain, F. Picard, A. Camuzat, E. Fedirko, C. San, D. Bouteiller, E. Leguern, A. Durr, M. Vidailhet and A. Brice (2009). "Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia." Brain. Epub ahead of press
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| 28. |
Kumar, S., X. Sun, S. Sharma, S. Aggarwal, K. Ravi, J. R. Fineman and S. M. Black (2009). "Gtp Cyclohydrolase I Expression Is Regulated by Nitric Oxide: Role of Cyclic Amp." Am J Physiol Lung Cell Mol Physiol. Epub ahead of press
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| 29. |
Dobrowolski, S. F., K. Borski, C. C. Ellingson, R. Koch, H. L. Levy and E. W. Naylor (2009). "A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin." J Hum Genet. Epub ahead of press
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| 30. |
Du, J., H. Xu, N. Wei, B. Wakim, B. Halligan, K. A. Pritchard, Jr. and Y. Shi (2009). "Identification of proteins interacting with GTP cyclohydrolase I." Biochem Biophys Res Commun 385(2): 143-7.
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| 31. |
McHugh, P. C., P. R. Joyce and M. R. Kennedy (2009). "Polymorphisms of sepiapterin reductase gene alter promoter activity and may influence risk of bipolar disorder." Pharmacogenet Genomics 19(5): 330-7.
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| 32. |
Talvik, I., M. Segawa, K. Veri, K. Gross-Paju and T. Talvik (2009). "Cases of dopa-responsive dystonia (Segawa disease) in Estonia." Brain Dev. Epub ahead of press
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| 33. |
Gao, L., Y. F. Pung, J. Zhang, P. Chen, T. Wang, M. Li, M. Meza, L. Toro and H. L. Cai (2009). "Sepiapterin Reductase Regulation of Endothelial Tetrahydrobiopterin and Nitric Oxide Bioavailability." Am J Physiol Heart Circ Physiol.
Epub ahead of press
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| 34. |
Trender-Gerhard, I., M. G. Sweeney, P. Schwingenschuh, P. Mir, M. J. Edwards, A. Gerhard, J. M. Polke, M. G. Hanna, M. B. Davis, N. W. Wood and K. P. Bhatia (2009). "Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients." J Neurol Neurosurg Psychiatry. Epub ahead of press
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| 35. |
Pieper, G. M., I. A. Ionova, B. C. Cooley, R. Q. Migrino, A. K. Khanna, J. W. Whitsett and J. Vasquez-Vivar (2009). "Sepiapterin Decreases Acute Rejection and Apoptosis in Cardiac Transplants Independent of Changes in Nitric Oxide and iNOS Dimerization." J Pharmacol Exp Ther. Ephub ahead of press
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| 36. |
Wu, G. and C. J. Meininger (2009). "Nitric oxide and vascular insulin resistance." Biofactors 35(1): 21-7.
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| 37. |
Nunes, A. C., D. C. Kalkmann and F. J. Aragao (2009). "Folate biofortification of lettuce by expression of a codon optimized chicken GTP cyclohydrolase I gene." Transgenic Res. Epub ahead of press
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| 38. |
Gizewska, M., G. Hnatyszyn, L. Sagan, L. Cyrylowski, C. Zekanowski, M. Modrzejewska, B. Nestorowicz, J. Kubalska and M. Walczak (2009). "Maternal tetrahydrobiopterin deficiency: The course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency." J Inherit Metab Dis. Epub ahead of press
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| 39. |
Daniele, A., I. Scala, G. Cardillo, C. Pennino, C. Ungaro, M. Sibilio, G. Parenti, L. Esposito, A. Zagari, G. Andria and F. Salvatore (2009). "Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy." FEBS J 276(7): 2048-59.
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| 40. |
Segawa, M. (2009). "Autosomal Dominant GTP Cyclohydrolase I (AD GCH 1) Deficiency (Segawa Disease, Dystonia 5; DYT 5)." Chang Gung Med J 32(1): 1-11.
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| 41. |
Takeda, M., T. Yamashita, M. Shinohara, N. Sasaki, T. Takaya, K. Nakajima, N. Inoue, T. Masano, H. Tawa, S. Satomi-Kobayashi, R. Toh, D. Sugiyama, K. Nishimura, M. Yokoyama, K. I. Hirata and S. Kawashima (2009). "Plasma Tetrahydrobiopterin/Dihydrobiopterin Ratio." Circ J. Epub ahead of press
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| 42. |
Chiarini, A., U. Armato, R. Pacchiana and I. Dal Pra (2009). "Proteomic analysis of GTP cyclohydrolase 1 multiprotein complexes in cultured normal adult human astrocytes under both basal and cytokine-activated conditions." Proteomics. Epub ahead of press
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| 43. |
Tatham, A. L., M. J. Crabtree, N. Warrick, S. Cai, N. J. Alp and K. M. Channon (2009). "GTP cyclohydrolase I expression, protein and activity determine intracellular tetrahydrobiopterin levels, independent of GTP cyclohydrolase feedback regulatory protein expression." J Biol Chem. Epub ahead of press
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| 44. |
Sugiyama, T., B. D. Levy and T. Michel (2009). "Tetrahydrobiopterin recycling: a key determinant of eNOS-dependent signaling pathways in cultured vascular endothelial cells." J Biol Chem. Epub ahead of press
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| 45. |
Hirakawa, H., H. Sawada, Y. Yamahama, S. I. Takikawa, H. Shintaku, A. Hara, K. Mase, T. Kondo and T. Iino (2009). "Expression analysis of the aldo-keto reductases involved in the novel biosynthetic pathway of tetrahydrobiopterin in human and mouse tissues." J Biochem.
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| 46. |
Trefz, F. K., B. K. Burton, N. Longo, M. M. Casanova, D. J. Gruskin, A. Dorenbaum, E. D. Kakkis, E. A. Crombez, D. K. Grange, P. Harmatz, M. H. Lipson, A. Milanowski, L. M. Randolph, J. Vockley, C. B. Whitley, J. A. Wolff, J. Bebchuk, H. Christ-Schmidt and J. B. Hennermann (2009). "Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study." J Pediatr.Epub ahead of press
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| 47. |
Meng, Y., S. Katsuma, T. Daimon, Y. Banno, K. Uchino, H. Sezutsu, T. Tamura, K. Mita and T. Shimada (2009). "The silkworm mutant lemon (lemon lethal) is a potential insect model for human sepiapterin reductase deficiency." J Biol Chem. Epub ahead of press
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| 48. |
Park, J. W., E. S. Park, E. N. Choi, H. Y. Park and S. C. Jung (2009). "Altered brain gene expression profiles associated with the pathogenesis of phenylketonuria in a mouse model." Clin Chim Acta 401(1-2): 90-9.
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| 49. |
Kusmierska, K., E. E. Jansen, C. Jakobs, K. Szymanska, E. Malunowicz, D. Meilei, B. Thony, N. Blau, J. Tryfon, D. Rokicki, E. Pronicka and J. Sykut-Cegielska (2009). "Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up." J Inherit Metab Dis: DOI 10.1007/s10545-008-1009-4.
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| 50. |
Menyhard, D. K. (2009). "Comparative Computational Analysis of Active and Inactive Cofactors of Nitric Oxide Synthase." J Phys Chem B. Epub ahead of press
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| 51. |
Blau, N., A. Belanger-Quintana, M. Demirkol, F. Feillet, M. Giovannini, A. Macdonald, F. K. Trefz and F. J. van Spronsen (2009). "Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria." Mol Genet Metab. 96: 158-163
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| 52. |
Gramer, G., S. F. Garbade, N. Blau and M. Lindner (2009). "Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria." J Inherit Metab Dis 32(1): 52-7.
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Burlina, A. and N. Blau (2009). "Effect of BH(4) supplementation on phenylalanine tolerance." J Inherit Metab Dis 32(1): 40-5.
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| 54. |
Hoeksma, M., D. J. Reijngoud, J. Pruim, H. W. de Valk, A. M. Paans and F. J. van Spronsen (2009). "Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis." Mol Genet Metab.Epub ahead of press
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| 55. |
Yu, W., D. Qiu, F. Song, L. Liu, S. Liu, X. He, Y. Jin, Y. Zhang, H. Zou, J. He, Q. Lei and X. Liu (2009). "Characteristics of the PAH gene mutation in Chinese patients with phenylketonuria in Xinjiang.." Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26(1): 26-30. [Chinese]
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Blau, N. and B. Thony (2009). "Tetrahydrobiopterin in biomedical research." J Inherit Metab Dis 32(1): 1-2.
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| 57. |
Sidell, N., L. Hao, M. Pasquali and J. D. McDonald (2009). "Carcinogenic effects in a phenylketonuria mouse model." PLoS ONE 4(1): e4292.
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Shintaku, H. (2009). "Biopterin and child neurologic disease." No To Hattatsu 41(1): 5-10. (Japanese)
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| 59. |
Leriche, L., T. Bjorklund, N. Breysse, L. Besret, M. C. Gregoire, T. Carlsson, F. Dolle, R. J. Mandel, N. Deglon, P. Hantraye and D. Kirik (2009). "Positron emission tomography imaging demonstrates correlation between behavioral recovery and correction of dopamine neurotransmission after gene therapy." J Neurosci 29(5): 1544-53.
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| 60. |
Watschinger, K., M. A. Keller, A. Hermetter, G. Golderer, G. Werner-Felmayer and E. R. Werner (2009). "Glyceryl ether monooxygenase resembles aromatic amino acid hydroxylases in metal ion and tetrahydrobiopterin dependence." Biol Chem 390(1): 3-10.
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| 61. |
Chongthammakun, V., Y. Sanvarinda and S. Chongthammakun (2009). "Reactive oxygen species production and MAPK activation are implicated in tetrahydrobiopterin-induced SH-SY5Y cell death." Neurosci Lett 449(3): 178-82.
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| 62. |
Steventon, G. B., S. C. Mitchell, B. Perez, L. R. Desviat and M. Ugarte (2009). "The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-l-cysteine." Mol Genet Metab 96(1): 27-31.
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