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Gene Review

hph1  -  hyperphenylalaninemia 1

Mus musculus

Synonyms: hph-1
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Disease relevance of hph1


Psychiatry related information on hph1


High impact information on hph1


Chemical compound and disease context of hph1


Biological context of hph1

  • These results suggest that the hph-1 mutation may involve alteration of the catalytic site but does not detectably alter the whole enzyme structure [14].
  • Among 328 different mutations by state (Fig. 2) the majority are rare mutations causing hyperphenylalaninemia (HPA) (OMIM 261600), the remainder are polymorphic variants without apparent effect on phenotype [15].
  • Only six different mutations account for 60% of human HPA chromosomes worldwide, mutations stratify by population and geographic region, and the Oriental and Caucasian mutation sets are different (Fig. 3). PAHdb provides curated electronic publication and one third of its incoming reports are direct submissions [15].
  • PAHdb modules contain mutations, polymorphic haplotypes, genotype-phenotype correlations, expression analysis, sources of information and the reference sequence; the database also contains pages of clinical information and data on three ENU mouse orthologues of human HPA [15].
  • GTP cyclohydrolase I gene expression in the brains of male and female hph-1 mice [16].

Anatomical context of hph1


Associations of hph1 with chemical compounds


Regulatory relationships of hph1

  • Only in hph-1 mice were the relaxations inhibited by catalase and enhanced by superoxide dismutase [20].
  • In contrast, iNOS specific activity and iNOS protein were enhanced in hph-1 stimulated astrocytes by 40 and 60%, respectively when compared with wild type [26].

Other interactions of hph1


Analytical, diagnostic and therapeutic context of hph1


  1. Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice. Mochizuki, S., Mizukami, H., Ogura, T., Kure, S., Ichinohe, A., Kojima, K., Matsubara, Y., Kobayahi, E., Okada, T., Hoshika, A., Ozawa, K., Kume, A. Gene Ther. (2004) [Pubmed]
  2. Alterations in expression of dopamine receptors and neuropeptides in the striatum of GTP cyclohydrolase-deficient mice. Zeng, B.Y., Heales, S.J., Canevari, L., Rose, S., Jenner, P. Exp. Neurol. (2004) [Pubmed]
  3. The PKU mouse project: its history, potential and implications. McDonald, J.D. Acta paediatrica (Oslo, Norway : 1992). Supplement. (1994) [Pubmed]
  4. A histological study of the hph-1 mouse mutant: an animal model of phenylketonuria and infantile hypertrophic pyloric stenosis. Abel, R.M., Dorè, C.J., Bishop, A.E., Facer, P., Polak, J.M., Spitz, L. Anatomia, histologia, embryologia. (2004) [Pubmed]
  5. Hepatocyte nuclear factor 1 alpha controls renal expression of the Npt1-Npt4 anionic transporter locus. Cheret, C., Doyen, A., Yaniv, M., Pontoglio, M. J. Mol. Biol. (2002) [Pubmed]
  6. Loss of neurotransmitter receptors by hyperphenylalaninemia in the HPH-5 mouse brain. Hommes, F.A. Acta paediatrica (Oslo, Norway : 1992). Supplement. (1994) [Pubmed]
  7. A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Sarkissian, C.N., Shao, Z., Blain, F., Peevers, R., Su, H., Heft, R., Chang, T.M., Scriver, C.R. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  8. Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase. McDonald, J.D., Bode, V.C., Dove, W.F., Shedlovsky, A. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  9. The hph-1 mouse: a model for dominantly inherited GTP-cyclohydrolase deficiency. Hyland, K., Gunasekara, R.S., Munk-Martin, T.L., Arnold, L.A., Engle, T. Ann. Neurol. (2003) [Pubmed]
  10. Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia. Thöny, B., Ding, Z., Martínez, A. FEBS Lett. (2004) [Pubmed]
  11. Induction of hyperphenylalaninemia in mice by ethionine and phenylalanine. Schott, K., Gehrmann, J., Neuhoff, V. Biochem. Med. Metab. Biol. (1986) [Pubmed]
  12. Deficits in brain serotonin synthesis in a genetic mouse model of phenylketonuria. Pascucci, T., Ventura, R., Puglisi-Allegra, S., Cabib, S. Neuroreport (2002) [Pubmed]
  13. Measurement of phenyllactate, phenylacetate, and phenylpyruvate by negative ion chemical ionization-gas chromatography/mass spectrometry in brain of mouse genetic models of phenylketonuria and non-phenylketonuria hyperphenylalaninemia. Sarkissian, C.N., Scriver, C.R., Mamer, O.A. Anal. Biochem. (2000) [Pubmed]
  14. Isolation and characterization of GTP cyclohydrolase I from mouse liver. Comparison of normal and the hph-1 mutant. Cha, K.W., Jacobson, K.B., Yim, J.J. J. Biol. Chem. (1991) [Pubmed]
  15. PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases. Nowacki, P.M., Byck, S., Prevost, L., Scriver, C.R. Nucleic Acids Res. (1998) [Pubmed]
  16. GTP cyclohydrolase I gene expression in the brains of male and female hph-1 mice. Shimoji, M., Hirayama, K., Hyland, K., Kapatos, G. J. Neurochem. (1999) [Pubmed]
  17. Low therapeutic threshold for hepatocyte replacement in murine phenylketonuria. Hamman, K., Clark, H., Montini, E., Al-Dhalimy, M., Grompe, M., Finegold, M., Harding, C.O. Mol. Ther. (2005) [Pubmed]
  18. Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice. Harding, C.O., Neff, M., Jones, K., Wild, K., Wolff, J.A. The journal of gene medicine. (2003) [Pubmed]
  19. The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria. Harding, C.O., Neff, M., Wild, K., Jones, K., Elzaouk, L., Thöny, B., Milstien, S. Mol. Genet. Metab. (2004) [Pubmed]
  20. Reactive oxygen species mediate endothelium-dependent relaxations in tetrahydrobiopterin-deficient mice. Cosentino, F., Barker, J.E., Brand, M.P., Heales, S.J., Werner, E.R., Tippins, J.R., West, N., Channon, K.M., Volpe, M., Lüscher, T.F. Arterioscler. Thromb. Vasc. Biol. (2001) [Pubmed]
  21. Tetrahydrobiopterin regulates cyclic GMP-dependent electrogenic Cl- secretion in mouse ileum in vitro. Rolfe, V.E., Brand, M.P., Heales, S.J., Lindley, K.J., Milla, P.J. J. Physiol. (Lond.) (1997) [Pubmed]
  22. Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse. Brand, M.P., Heales, S.J., Land, J.M., Clark, J.B. J. Inherit. Metab. Dis. (1995) [Pubmed]
  23. Hyperphenylalaninemia in the hph-1 mouse mutant. McDonald, J.D., Bode, V.C. Pediatr. Res. (1988) [Pubmed]
  24. Neurochemical effects following peripheral administration of tetrahydropterin derivatives to the hph-1 mouse. Brand, M.P., Hyland, K., Engle, T., Smith, I., Heales, S.J. J. Neurochem. (1996) [Pubmed]
  25. Stimulation of the brain NO/cyclic GMP pathway by peripheral administration of tetrahydrobiopterin in the hph-1 mouse. Canevari, L., Land, J.M., Clark, J.B., Heales, S.J. J. Neurochem. (1999) [Pubmed]
  26. Increased inducible nitric oxide synthase protein but limited nitric oxide formation occurs in astrocytes of the hph-1 (tetrahydrobiopterin deficient) mouse. Barker, J.E., Strangward, H.M., Brand, M.P., Hurst, R.D., Land, J.M., Clark, J.B., Heales, S.J. Brain Res. (1998) [Pubmed]
  27. Metabolic engineering as therapy for inborn errors of metabolism--development of mice with phenylalanine hydroxylase expression in muscle. Harding, C.O., Wild, K., Chang, D., Messing, A., Wolff, J.A. Gene Ther. (1998) [Pubmed]
  28. Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities. Sumi-Ichinose, C., Urano, F., Shimomura, A., Sato, T., Ikemoto, K., Shiraishi, H., Senda, T., Ichinose, H., Nomura, T. J. Neurochem. (2005) [Pubmed]
  29. Tetrahydrobiopterin and biogenic amine metabolism in the hph-1 mouse. Hyland, K., Gunasekera, R.S., Engle, T., Arnold, L.A. J. Neurochem. (1996) [Pubmed]
  30. Localization of mouse phenylalanine hydroxylase locus on chromosome 10. Ledley, F.D., Ledbetter, S.A., Ledbetter, D.H., Woo, S.L. Cytogenet. Cell Genet. (1988) [Pubmed]
  31. Pulmonary hypertension in a GTP-cyclohydrolase 1-deficient mouse. Nandi, M., Miller, A., Stidwill, R., Jacques, T.S., Lam, A.A., Haworth, S., Heales, S., Vallance, P. Circulation (2005) [Pubmed]
  32. Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria. Harding, C.O., Gillingham, M.B., Hamman, K., Clark, H., Goebel-Daghighi, E., Bird, A., Koeberl, D.D. Gene Ther. (2006) [Pubmed]
  33. hph-1: a mouse mutant with hereditary hyperphenylalaninemia induced by ethylnitrosourea mutagenesis. Bode, V.C., McDonald, J.D., Guenet, J.L., Simon, D. Genetics (1988) [Pubmed]
  34. Congenic mapping and genotyping of the tetrahydrobiopterin-deficient hph-1 mouse. Khoo, J.P., Nicoli, T., Alp, N.J., Fullerton, J., Flint, J., Channon, K.M. Mol. Genet. Metab. (2004) [Pubmed]
  35. Studies on the genotype-phenotype relation in the hph-1 mouse mutant deficient in guanosine triphosphate (GTP) cyclohydrolase I activity. Maeda, T., Haeno, S., Oda, K., Mori, D., Ichinose, H., Nagatsu, T., Suzuki, T. Brain Dev. (2000) [Pubmed]
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