| Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia. Thony B., Ding Z., Martinez A.
FEBS Lett. 577:507-511(2004) GeneRIF 18478 · Mapped (9)
Tetrahydrobiopterin protects PAH activity in vivo. GeneRIF 18478 |
| Characterization of transgenic mice with the expression of phenylalanine hydroxylase and GTP cyclohydrolase I in the skin. Christensen R., Alhonen L., Wahlfors J., Jakobsen M., Jensen T.G.
Exp. Dermatol. 14:535-542(2005) GeneRIF 18478 MGI 97473 · Mapped (8)
low level of phenylalanine clearance was observed in mice expressing PAH and GTP-CH from the keratin 14 promoter GeneRIF 18478 |
| In vivo regulation of phenylalanine hydroxylase in the genetic mutant hph-1 mouse model. Gunasekera R.S., Hyland K.
Mol. Genet. Metab. 98:264-272(2009) GeneRIF 18478 · Mapped (2)
phenylalanine concentration regulates the activity of PAH in the hph-1 mouse and that this acts via a mechanism that includes phosphorylation of the PAH molecule GeneRIF 18478 |
| Oligodendrocyte development and myelinogenesis are not impaired by high concentrations of phenylalanine or its metabolites. Schoemans R., Aigrot M.S., Wu C., Maree R., Hong P., Belachew S., Josse C., Lubetzki C., Bours V.
J. Inherit. Metab. Dis. 33:113-120(2010) GeneRIF 18478 · Mapped (2)
high levels of Phe such as in phenylketonuria are unlikely to directly induce brain hypomyelination suggesting involvement of alternative mechanisms in this myelination defect GeneRIF 18478 |
| Retroviral insertions in Evi12, a novel common virus integration site upstream of Tra1/Grp94, frequently coincide with insertions in the gene encoding the peripheral cannabinoid receptor Cnr2. Valk P.J., Vankan Y., Joosten M., Jenkins N.A., Copeland N.G., Lowenberg B., Delwel R.
J. Virol. 73:3595-3602(1999) MGI 97473 · Mapped (31) |
| Cognitive deficits in a genetic mouse model of the most common biochemical cause of human mental retardation. Zagreda L., Goodman J., Druin D.P., McDonald D., Diamond A.
J. Neurosci. 19:6175-6182(1999) MGI 97473 · Mapped (5) |
| Cloning, expression, and chromosomal localization of a mouse gene homologous to the germ cell migration regulator wunen and to type 2 phosphatidic acid phosphatases. Zhang N., Copeland N.G., Gilbert D.J., Jenkins N.A., Gridley T.
Genomics 63:142-144(2000) MGI 97473 · UniProtKB (1) · Mapped (22) |
| A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia. Sarkissian C.N., Boulais D.M., McDonald J.D., Scriver C.R.
Mol. Genet. Metab. 69:188-194(2000) MGI 97473 · Mapped (5) |
| Dissection of behavior and psychiatric disorders using the mouse as a model. Tarantino L.M., Bucan M.
Hum. Mol. Genet. 9:953-965(2000) MGI 97473 · Mapped (148) |
| Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria. Puglisi-Allegra S., Cabib S., Pascucci T., Ventura R., Cali F., Romano V.
Neuroreport 11:1361-1364(2000) MGI 97473 · Mapped (5) |
| Transcriptional regulation of liver development. Duncan S.A.
Dev. Dyn. 219:131-142(2000) MGI 97473 · Mapped (75) |
| Cerebral protein synthesis in a genetic mouse model of phenylketonuria. Smith C.B., Kang J.
Proc. Natl. Acad. Sci. U.S.A. 97:11014-11019(2000) MGI 97473 · Mapped (5) |
| Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3). Haefele M.J., White G., McDonald J.D.
Mol. Genet. Metab. 72:27-30(2001) MGI 97473 · Mapped (5) |
| Effect of maternal blood phenylalanine level on mouse maternal phenylketonuria offspring. Cho S., McDonald J.D.
Mol. Genet. Metab. 74:420-425(2001) MGI 97473 · Mapped (5) |
| Oxidative stress in a phenylketonuria animal model. Ercal N., Aykin-Burns N., Gurer-Orhan H., McDonald J.D.
Free Radic. Biol. Med. 32:906-911(2002) MGI 97473 · Mapped (5) |
| Deficits in brain serotonin synthesis in a genetic mouse model of phenylketonuria. Pascucci T., Ventura R., Puglisi-Allegra S., Cabib S.
Neuroreport 13:2561-2564(2002) MGI 97473 · Mapped (5) |
| The behavioral profile of severe mental retardation in a genetic mouse model of phenylketonuria. Cabib S., Pascucci T., Ventura R., Romano V., Puglisi-Allegra S.
Behav. Genet. 33:301-310(2003) MGI 97473 · Mapped (5) |
| Relationship between myelin production and dopamine synthesis in the PKU mouse brain. Joseph B., Dyer C.A.
J. Neurochem. 86:615-626(2003) MGI 97473 · Mapped (5) |
| Evolution of the mammalian G protein alpha subunit multigene family. Wilkie T.M., Gilbert D.J., Olsen A.S., Chen X.N., Amatruda T.T., Korenberg J.R., Trask B.J., de Jong P., Reed R.R., Simon M.I.
Nat. Genet. 1:85-91(1992) MGI 97473 · Mapped (162) |
| Reconstitution of enzymatic activity in hepatocytes of phenylalanine hydroxylase-deficient mice. Liu T.J., Kay M.A., Darlington G.J., Woo S.L.
Somat. Cell Mol. Genet. 18:89-96(1992) MGI 97473 · Mapped (5) |
| Chromosomal localization of two cell surface-associated molecules of potential importance in development: midkine (Mdk) and basigin (Bsg). Simon-Chazottes D., Matsubara S., Miyauchi T., Muramatsu T., Guenet J.L.
Mamm. Genome 2:269-271(1992) MGI 97473 · Mapped (20) |
| A molecular genetic linkage map of mouse chromosome 10, including the Myb, S100b, Pah, Sl, and Ifg genes. Shimizu A., Sakai Y., Ohno K., Masaki S., Kuwano R., Takahashi Y., Miyashita N., Watanabe T.
Biochem. Genet. 30:529-535(1992) MGI 97473 · Mapped (25) |
| GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A., Thaller C., Eichele G.
Nucleic Acids Res. 32:D552-D556(2004) MGI 97473 · UniProtKB (1) · Mapped (11,616) |
| The L-isoaspartyl/D-aspartyl protein methyltransferase gene (PCMT1) maps to human chromosome 6q22.3-6q24 and the syntenic region of mouse chromosome 10. MacLaren D.C., O'Connor C.M., Xia Y.R., Mehrabian M., Klisak I., Sparkes R.S., Clarke S., Lusis A.J.
Genomics 14:852-856(1992) MGI 97473 · Mapped (29) |
| Plasma phenylalanine concentrations are associated with hepatic iron content in a murine model for phenylketonuria. Gropper S.S., Yannicelli S., White B.D., Medeiros D.M.
Mol. Genet. Metab. 82:76-82(2004) MGI 97473 · Mapped (5) |
